Rise of scientific excellence and collaboration for implementing personalised medicine in Estonia

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Pubblicazioni

Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis

Autori: Barbara Schormair, Chen Zhao, Steven Bell, Erik Tilch, Aaro V Salminen, Benno Pütz, Yves Dauvilliers, Ambra Stefani, Birgit Högl, Werner Poewe, David Kemlink, Karel Sonka, Cornelius G Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H Oertel, Magdolna Hornyak, Maris Teder-Laving, Andres Metspalu, Georgios M Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A Ross, Zbigniew Wszolek, Adam S Butter
Pubblicato in: The Lancet Neurology, Numero 16/11, 2017, Pagina/e 898-907, ISSN 1474-4422
Editore: The Lancet Publishing Group
DOI: 10.1016/S1474-4422(17)30327-7

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Autori: Linda M. Polfus, Rajiv K. Khajuria, Ursula M. Schick, Nathan Pankratz, Raha Pazoki, Jennifer A. Brody, Ming-Huei Chen, Paul L. Auer, James S. Floyd, Jie Huang, Leslie Lange, Frank J.A. van Rooij, Richard A. Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa Yanek, Lewis C. Becker, Gina M. Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu
Pubblicato in: The American Journal of Human Genetics, Numero 99/3, 2016, Pagina/e 785, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2016.08.002

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

Autori: Seyedeh M. Zekavat, Sanni Ruotsalainen, Robert E. Handsaker, Maris Alver, Jonathan Bloom, Timothy Poterba, Cotton Seed, Jason Ernst, Mark Chaffin, Jesse Engreitz, Gina M. Peloso, Ani Manichaikul, Chaojie Yang, Kathleen A. Ryan, Mao Fu, W. Craig Johnson, Michael Tsai, Matthew Budoff, Ramachandran S. Vasan, L. Adrienne Cupples, Jerome I. Rotter, Stephen S. Rich, Wendy Post, Braxton D. Mitchell, Adol
Pubblicato in: Nature Communications, Numero 9/1, 2018, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-04668-w

Ranking and characterization of established BMI and lipid associated loci as candidates for gene-environment interactions

Autori: Dmitry Shungin, Wei Q. Deng, Tibor V. Varga, Jian'an Luan, Evelin Mihailov, Andres Metspalu, Andrew P. Morris, Nita G. Forouhi, Cecilia Lindgren, Patrik K. E. Magnusson, Nancy L. Pedersen, Göran Hallmans, Audrey Y. Chu, Anne E. Justice, Mariaelisa Graff, Thomas W. Winkler, Lynda M. Rose, Claudia Langenberg, L. Adrienne Cupples, Paul M. Ridker, Nicholas J. Wareham, Ken K. Ong, Ruth J. F. Loos, Dan
Pubblicato in: PLOS Genetics, Numero 13/6, 2017, Pagina/e e1006812, ISSN 1553-7390
Editore: Public Library of Science
DOI: 10.1371/journal.pgen.1006812

Genetic loci associated with coronary artery disease harbor evidence of selection and antagonistic pleiotropy

Autori: Sean G. Byars, Qin Qin Huang, Lesley-Ann Gray, Andrew Bakshi, Samuli Ripatti, Gad Abraham, Stephen C. Stearns, Michael Inouye
Pubblicato in: PLOS Genetics, Numero 13/6, 2017, Pagina/e e1006328, ISSN 1553-7404
Editore: PLOS
DOI: 10.1371/journal.pgen.1006328

Smoking-related general and cause-specific mortality in Estonia

Autori: Gea Kõks, Krista Fischer, Sulev Kõks
Pubblicato in: BMC Public Health, Numero 18/1, 2018, ISSN 1471-2458
Editore: BioMed Central
DOI: 10.1186/s12889-017-4590-3

Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

Autori: Laramie Duncan, Zeynep Yilmaz, Helena Gaspar, Raymond Walters, Jackie Goldstein, Verneri Anttila, Brendan Bulik-Sullivan, Stephan Ripke, Laura Thornton, Anke Hinney, Mark Daly, Patrick F. Sullivan, Eleftheria Zeggini, Gerome Breen, Cynthia M. Bulik, Laramie Duncan, Zeynep Yilmaz, Héléna Gaspar, Raymond Walters, Jackie Goldstein, Verneri Anttila, Brendan Bulik-Sullivan, Stephan Ripke, Roger Adan,
Pubblicato in: American Journal of Psychiatry, Numero 174/9, 2017, Pagina/e 850-858, ISSN 0002-953X
Editore: American Psychiatric Publishing, Inc.
DOI: 10.1176/appi.ajp.2017.16121402

C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis

Autori: Kaido Lepik, Tarmo Annilo, Viktorija Kukuškina, Kai Kisand, Zoltán Kutalik, Pärt Peterson, Hedi Peterson
Pubblicato in: PLOS Computational Biology, Numero 13/9, 2017, Pagina/e e1005766, ISSN 1553-7358
Editore: PLOS
DOI: 10.1371/journal.pcbi.1005766

Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria

Autori: Felix Day, Tugce Karaderi, Michelle R. Jones, Cindy Meun, Chunyan He, Alex Drong, Peter Kraft, Nan Lin, Hongyan Huang, Linda Broer, Reedik Magi, Richa Saxena, Triin Laisk, Margrit Urbanek, M. Geoffrey Hayes, Gudmar Thorleifsson, Juan Fernandez-Tajes, Anubha Mahajan, Benjamin H. Mullin, Bronwyn G. A. Stuckey, Timothy D. Spector, Scott G. Wilson, Mark O. Goodarzi, Lea Davis, Barbara Obermayer-Pietsc
Pubblicato in: PLOS Genetics, Numero 14/12, 2018, Pagina/e e1007813, ISSN 1553-7404
Editore: PLOS
DOI: 10.1371/journal.pgen.1007813

An interaction map of circulating metabolites, immune gene networks, and their genetic regulation

Autori: Artika P. Nath, Scott C. Ritchie, Sean G. Byars, Liam G. Fearnley, Aki S. Havulinna, Anni Joensuu, Antti J. Kangas, Pasi Soininen, Annika Wennerström, Lili Milani, Andres Metspalu, Satu Männistö, Peter Würtz, Johannes Kettunen, Emma Raitoharju, Mika Kähönen, Markus Juonala, Aarno Palotie, Mika Ala-Korpela, Samuli Ripatti, Terho Lehtimäki, Gad Abraham, Olli Raitakari, Veikko Salomaa, Markus
Pubblicato in: Genome Biology, Numero 18/1, 2017, ISSN 1474-760X
Editore: BMC
DOI: 10.1186/s13059-017-1279-y

Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution

Autori: Reedik Mägi, Momoko Horikoshi, Tamar Sofer, Anubha Mahajan, Hidetoshi Kitajima, Nora Franceschini, Mark I. McCarthy, Andrew P. Morris
Pubblicato in: Human Molecular Genetics, Numero 26/18, 2017, Pagina/e 3639-3650, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddx280

Association of branched-chain amino acids and other circulating metabolites with risk of incident dementia and Alzheimer's disease: A prospective study in eight cohorts

Autori: Juho Tynkkynen, Vincent Chouraki, Sven J. van der Lee, Jussi Hernesniemi, Qiong Yang, Shuo Li, Alexa Beiser, Martin G. Larson, Katri Sääksjärvi, Martin J. Shipley, Archana Singh-Manoux, Robert E. Gerszten, Thomas J. Wang, Aki S. Havulinna, Peter Würtz, Krista Fischer, Ayse Demirkan, M. Arfan Ikram, Najaf Amin, Terho Lehtimäki, Mika Kähönen, Markus Perola, Andres Metspalu, Antti J. Kangas, P
Pubblicato in: Alzheimer's & Dementia, Numero 14/6, 2018, Pagina/e 723-733, ISSN 1552-5260
Editore: Elsevier BV
DOI: 10.1016/j.jalz.2018.01.003

Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia

Autori: Maris Alver, Marili Palover, Aet Saar, Kristi Läll, Seyedeh Maryam Zekavat, Neeme Tõnisson, Liis Leitsalu, Anu Reigo, Tiit Nikopensius, Tiia Ainla, Mart Kals, Reedik Mägi, Stacey B. Gabriel, Jaan Eha, Eric S. Lander, Alar Irs, Anthony Philippakis, Toomas Marandi, Pradeep Natarajan, Andres Metspalu, Sekar Kathiresan, Tõnu Esko
Pubblicato in: Genetics in Medicine, Numero Published Online: 01 October 2018, 2018, Pagina/e 1-0, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-018-0311-2

Circulating metabolic biomarkers of renal function in diabetic and non-diabetic populations

Autori: Clara Barrios, Jonas Zierer, Peter Würtz, Toomas Haller, Andres Metspalu, Christian Gieger, Barbara Thorand, Christa Meisinger, Melanie Waldenberger, Olli Raitakari, Terho Lehtimäki, Sol Otero, Eva Rodríguez, Juan Pedro-Botet, Mika Kähönen, Mika Ala-Korpela, Gabi Kastenmüller, Tim D. Spector, Julio Pascual, Cristina Menni
Pubblicato in: Scientific Reports, Numero 8/1, 2018, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-018-33507-7

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

Autori: Evangelos Evangelou, Helen R. Warren, David Mosen-Ansorena, Borbala Mifsud, Raha Pazoki, He Gao, Georgios Ntritsos, Niki Dimou, Claudia P. Cabrera, Ibrahim Karaman, Fu Liang Ng, Marina Evangelou, Katarzyna Witkowska, Evan Tzanis, Jacklyn N. Hellwege, Ayush Giri, Digna R. Velez Edwards, Yan V. Sun, Kelly Cho, J. Michael Gaziano, Peter W. F. Wilson, Philip S. Tsao, Csaba P. Kovesdy, Tonu Esko, Reedi
Pubblicato in: Nature Genetics, Numero 50/10, 2018, Pagina/e 1412-1425, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-018-0205-x

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

Autori: Douglas M. Ruderfer, Stephan Ripke, Andrew McQuillin, James Boocock, Eli A. Stahl, Jennifer M. Whitehead Pavlides, Niamh Mullins, Alexander W. Charney, Anil P.S. Ori, Loes M. Olde Loohuis, Enrico Domenici, Arianna Di Florio, Sergi Papiol, Janos L. Kalman, Vassily Trubetskoy, Rolf Adolfsson, Ingrid Agartz, Esben Agerbo, Huda Akil, Diego Albani, Margot Albus, Martin Alda, Madeline Alexander, Ney All
Pubblicato in: Cell, Numero 173/7, 2018, Pagina/e 1705-1715.e16, ISSN 0092-8674
Editore: Cell Press
DOI: 10.1016/j.cell.2018.05.046

Genetic risk scores and family history as predictors of schizophrenia in Nordic registers

Autori: Y. Lu, J. G. Pouget, O. A. Andreassen, S. Djurovic, T. Esko, C. M. Hultman, A. Metspalu, L. Milani, T. Werge, P. F. Sullivan
Pubblicato in: Psychological Medicine, Numero 48/07, 2018, Pagina/e 1201-1208, ISSN 0033-2917
Editore: Cambridge University Press
DOI: 10.1017/s0033291717002665

GWAS of lifetime cannabis use reveals new risk loci, genetic overlap with psychiatric traits, and a causal influence of schizophrenia

Autori: Joëlle A. Pasman, Karin J. H. Verweij, Zachary Gerring, Sven Stringer, Sandra Sanchez-Roige, Jorien L. Treur, Abdel Abdellaoui, Michel G. Nivard, Bart M. L. Baselmans, Jue-Sheng Ong, Hill F. Ip, Matthijs D. van der Zee, Meike Bartels, Felix R. Day, Pierre Fontanillas, Sarah L. Elson, Harriet de Wit, Lea K. Davis, James MacKillop, Jaime L. Derringer, Susan J. T. Branje, Catharina A. Hartman, Andre
Pubblicato in: Nature Neuroscience, Numero 21/9, 2018, Pagina/e 1161-1170, ISSN 1097-6256
Editore: Nature Publishing Group
DOI: 10.1038/s41593-018-0206-1

Large-scale meta-analysis highlights the hypothalamic–pituitary–gonadal axis in the genetic regulation of menstrual cycle length

Autori: Triin Laisk, Viktorija Kukuškina, Duncan Palmer, Samantha Laber, Chia-Yen Chen, Teresa Ferreira, Nilufer Rahmioglu, Krina Zondervan, Christian Becker, Jordan W Smoller, Margaret Lippincott, Andres Salumets, Ingrid Granne, Stephanie Seminara, Benjamin Neale, Reedik Mägi, Cecilia M Lindgren
Pubblicato in: Human Molecular Genetics, Numero 27(24), 2018, Pagina/e 4323-4332, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddy317

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals

Autori: James J. Lee, Robbee Wedow, Aysu Okbay, Edward Kong, Omeed Maghzian, Meghan Zacher, Tuan Anh Nguyen-Viet, Peter Bowers, Julia Sidorenko, Richard Karlsson Linnér, Mark Alan Fontana, Tushar Kundu, Chanwook Lee, Hui Li, Ruoxi Li, Rebecca Royer, Pascal N. Timshel, Raymond K. Walters, Emily A. Willoughby, Loïc Yengo, Maris Alver, Yanchun Bao, David W. Clark, Felix R. Day, Nicholas A. Furlotte, Peter
Pubblicato in: Nature Genetics, Numero 50/8, 2018, Pagina/e 1112-1121, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-018-0147-3

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Autori: Symen Ligthart, Ahmad Vaez, Urmo Võsa, Maria G. Stathopoulou, Paul S. de Vries, Bram P. Prins, Peter J. Van der Most, Toshiko Tanaka, Elnaz Naderi, Lynda M. Rose, Ying Wu, Robert Karlsson, Maja Barbalic, Honghuang Lin, René Pool, Gu Zhu, Aurélien Macé, Carlo Sidore, Stella Trompet, Massimo Mangino, Maria Sabater-Lleal, John P. Kemp, Ali Abbasi, Tim Kacprowski, Niek Verweij, Albert V. Smith, Ta
Pubblicato in: The American Journal of Human Genetics, Numero 103/5, 2018, Pagina/e 691-706, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.09.009

Genome-wide analysis of nuclear magnetic resonance metabolites revealed parent-of-origin effect on triglycerides in medium very low-density lipoprotein in PTPRD gene

Autori: N Pervjakova, V Kukushkina, T Haller, S Kasela, A Joensuu, K Kristiansson, T Annilo, M Perola, V Salomaa, P Jousilahti, A Metspalu, R Mägi
Pubblicato in: Biomarkers in Medicine, Numero 12/5, 2018, Pagina/e 439-446, ISSN 1752-0363
Editore: Future Medicine Ltd.
DOI: 10.2217/bmm-2018-0020

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

Autori: Pradeep Natarajan, Gina M. Peloso, Seyedeh Maryam Zekavat, May Montasser, Andrea Ganna, Mark Chaffin, Amit V. Khera, Wei Zhou, Jonathan M. Bloom, Jesse M. Engreitz, Jason Ernst, Jeffrey R. O’Connell, Sanni E. Ruotsalainen, Maris Alver, Ani Manichaikul, W. Craig Johnson, James A. Perry, Timothy Poterba, Cotton Seed, Ida L. Surakka, Tonu Esko, Samuli Ripatti, Veikko Salomaa, Adolfo Correa, Ramacha
Pubblicato in: Nature Communications, Numero 9/1, 2018, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-05747-8

The risk-treatment paradox in non-ST-elevation myocardial infarction patients according to their estimated GRACE risk

Autori: Aet Saar, Toomas Marandi, Tiia Ainla, Krista Fischer, Mai Blöndal, Jaan Eha
Pubblicato in: International Journal of Cardiology, Numero 272, 2018, Pagina/e 26-32, ISSN 0167-5273
Editore: Elsevier BV
DOI: 10.1016/j.ijcard.2018.08.015

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries

Autori: Mary F. Feitosa, Aldi T. Kraja, Daniel I. Chasman, Yun J. Sung, Thomas W. Winkler, Ioanna Ntalla, Xiuqing Guo, Nora Franceschini, Ching-Yu Cheng, Xueling Sim, Dina Vojinovic, Jonathan Marten, Solomon K. Musani, Changwei Li, Amy R. Bentley, Michael R. Brown, Karen Schwander, Melissa A. Richard, Raymond Noordam, Hugues Aschard, Traci M. Bartz, Lawrence F. Bielak, Rajkumar Dorajoo, Virginia Fisher, F
Pubblicato in: PLOS ONE, Numero 13/6, 2018, Pagina/e e0198166, ISSN 1932-6203
Editore: Public Library of Science
DOI: 10.1371/journal.pone.0198166

GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk

Autori: Nicola Pirastu, Peter K. Joshi, Paul S. de Vries, Marilyn C. Cornelis, Paul M. McKeigue, NaNa Keum, Nora Franceschini, Marco Colombo, Edward L. Giovannucci, Athina Spiliopoulou, Lude Franke, Kari E. North, Peter Kraft, Alanna C. Morrison, Tõnu Esko, James F. Wilson
Pubblicato in: Nature Communications, Numero 8/1, 2017, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-017-01490-8

Multi-ethnic genome-wide association study for atrial fibrillation

Autori: Carolina Roselli, Mark D. Chaffin, Lu-Chen Weng, Stefanie Aeschbacher, Gustav Ahlberg, Christine M. Albert, Peter Almgren, Alvaro Alonso, Christopher D. Anderson, Krishna G. Aragam, Dan E. Arking, John Barnard, Traci M. Bartz, Emelia J. Benjamin, Nathan A. Bihlmeyer, Joshua C. Bis, Heather L. Bloom, Eric Boerwinkle, Erwin B. Bottinger, Jennifer A. Brody, Hugh Calkins, Archie Campbell, Thomas P. Ca
Pubblicato in: Nature Genetics, Numero 50/9, 2018, Pagina/e 1225-1233, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-018-0133-9

Pharmacogenomic Biomarkers for Improved Drug Therapy—Recent Progress and Future Developments

Autori: Volker M. Lauschke, Lili Milani, Magnus Ingelman-Sundberg
Pubblicato in: The AAPS Journal, Numero 20/1, 2018, Pagina/e 1-16, ISSN 1550-7416
Editore: Springer New York
DOI: 10.1208/s12248-017-0161-x

Haplotype Sharing Provides Insights into Fine-Scale Population History and Disease in Finland

Autori: Alicia R. Martin, Konrad J. Karczewski, Sini Kerminen, Mitja I. Kurki, Antti-Pekka Sarin, Mykyta Artomov, Johan G. Eriksson, Tõnu Esko, Giulio Genovese, Aki S. Havulinna, Jaakko Kaprio, Alexandra Konradi, László Korányi, Anna Kostareva, Minna Männikkö, Andres Metspalu, Markus Perola, Rashmi B. Prasad, Olli Raitakari, Oxana Rotar, Veikko Salomaa, Leif Groop, Aarno Palotie, Benjamin M. Neale,
Pubblicato in: The American Journal of Human Genetics, Numero 102/5, 2018, Pagina/e 760-775, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.03.003

Genetic signature to provide robust risk assessment of psoriatic arthritis development in psoriasis patients

Autori: Matthew T. Patrick, Philip E. Stuart, Kalpana Raja, Johann E. Gudjonsson, Trilokraj Tejasvi, Jingjing Yang, Vinod Chandran, Sayantan Das, Kristina Callis-Duffin, Eva Ellinghaus, Charlotta Enerbäck, Tõnu Esko, Andre Franke, Hyun M. Kang, Gerald G. Krueger, Henry W. Lim, Proton Rahman, Cheryl F. Rosen, Stephan Weidinger, Michael Weichenthal, Xiaoquan Wen, John J. Voorhees, Gonçalo R. Abecasis, Da
Pubblicato in: Nature Communications, Numero 9/1, 2018, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-06672-6

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Autori: Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A. Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck, Kate Pope, Els Voorhoeve, Jieun Yoon, Paweł Stankiewicz, Sau Wai Cheung, Damian Pazuchanics, Emily Huber, Vijay Kumar, Rachel L. Kember, Francesca Mari, Aurora Curró, Lucia Castiglia, Ornella Galesi, Emanuela Avola, Teresa Mattina,
Pubblicato in: Genetics in Medicine, Numero Published Online: 07 September 2018, 2018, Pagina/e 1-10, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-018-0266-3

Genetic influence on social outcomes during and after the Soviet era in Estonia

Autori: Kaili Rimfeld, Eva Krapohl, Maciej Trzaskowski, Jonathan R. I. Coleman, Saskia Selzam, Philip S. Dale, Tonu Esko, Andres Metspalu, Robert Plomin
Pubblicato in: Nature Human Behaviour, Numero 2/4, 2018, Pagina/e 269-275, ISSN 2397-3374
Editore: PMC
DOI: 10.1038/s41562-018-0332-5

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Autori: Anubha Mahajan, Jennifer Wessel, Sara M. Willems, Wei Zhao, Neil R. Robertson, Audrey Y. Chu, Wei Gan, Hidetoshi Kitajima, Daniel Taliun, N. William Rayner, Xiuqing Guo, Yingchang Lu, Man Li, Richard A. Jensen, Yao Hu, Shaofeng Huo, Kurt K. Lohman, Weihua Zhang, James P. Cook, Bram Peter Prins, Jason Flannick, Niels Grarup, Vassily Vladimirovich Trubetskoy, Jasmina Kravic, Young Jin Kim, Denis V.
Pubblicato in: Nature Genetics, Numero 50/4, 2018, Pagina/e 559-571, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-018-0084-1

Reply to ‘Misestimation of heritability and prediction accuracy of male-pattern baldness’

Autori: Nicola Pirastu, Peter K. Joshi, Paul S. de Vries, Marilyn C. Cornelis, NaNa Keum, Nora Franceschini, Marco Colombo, Edward L. Giovannucci, Athina Spiliopoulou, Lude Franke, Kari E. North, Peter Kraft, Alanna C. Morrison, Tõnu Esko, James F. Wilson
Pubblicato in: Nature Communications, Numero 9/1, 2018, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-04808-2

Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions

Autori: Sulev Reisberg, Kristi Krebs, Maarja Lepamets, Mart Kals, Reedik Mägi, Kristjan Metsalu, Volker M. Lauschke, Jaak Vilo, Lili Milani
Pubblicato in: Genetics in Medicine, Numero Published Online: 16 October 2018, 2018, Pagina/e 1-10, ISSN 1098-3600
Editore: Lippincott Williams & Wilkins Ltd.
DOI: 10.1038/s41436-018-0337-5

Age at first birth in women is genetically associated with increased risk of schizophrenia

Autori: Guiyan Ni, Jacob Gratten, Naomi R. Wray, Sang Hong Lee
Pubblicato in: Scientific Reports, Numero 8/1, 2018, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-018-28160-z

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood

Autori: Guiyan Ni, Gerhard Moser, Naomi R. Wray, S. Hong Lee, Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T.R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau, Judit Bene, Sarah E. Bergen, El
Pubblicato in: The American Journal of Human Genetics, Numero 102/6, 2018, Pagina/e 1185-1194, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2018.03.021

Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

Autori: Priyanka Parmar, Estelle Lowry, Giovanni Cugliari, Matthew Suderman, Rory Wilson, Ville Karhunen, Toby Andrew, Petri Wiklund, Matthias Wielscher, Simonetta Guarrera, Alexander Teumer, Benjamin Lehne, Lili Milani, Niek de Klein, Pashupati P. Mishra, Phillip E. Melton, Pooja R. Mandaviya, Silva Kasela, Jana Nano, Weihua Zhang, Yan Zhang, Andre G. Uitterlinden, Annette Peters, Ben Schöttker, Christi
Pubblicato in: EBioMedicine, Numero 38, 2018, Pagina/e 206-216, ISSN 2352-3964
Editore: Elsevier BV
DOI: 10.1016/j.ebiom.2018.10.066

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Autori: Anubha Mahajan, Daniel Taliun, Matthias Thurner, Neil R. Robertson, Jason M. Torres, N. William Rayner, Anthony J. Payne, Valgerdur Steinthorsdottir, Robert A. Scott, Niels Grarup, James P. Cook, Ellen M. Schmidt, Matthias Wuttke, Chloé Sarnowski, Reedik Mägi, Jana Nano, Christian Gieger, Stella Trompet, Cécile Lecoeur, Michael H. Preuss, Bram Peter Prins, Xiuqing Guo, Lawrence F. Bielak, Jenni
Pubblicato in: Nature Genetics, Numero 50/11, 2018, Pagina/e 1505-1513, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/s41588-018-0241-6

Identifying gene targets for brain-related traits using transcriptomic and methylomic data from blood

Autori: Ting Qi, Yang Wu, Jian Zeng, Futao Zhang, Angli Xue, Longda Jiang, Zhihong Zhu, Kathryn Kemper, Loic Yengo, Zhili Zheng, Riccardo E. Marioni, Grant W. Montgomery, Ian J. Deary, Naomi R. Wray, Peter M. Visscher, Allan F. McRae, Jian Yang
Pubblicato in: Nature Communications, Numero 9/1, 2018, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/s41467-018-04558-1

NIPTmer: rapid k-mer-based software package for detection of fetal aneuploidies

Autori: Martin Sauk, Olga Žilina, Ants Kurg, Eva-Liina Ustav, Maire Peters, Priit Paluoja, Anne Mari Roost, Hindrek Teder, Priit Palta, Nathalie Brison, Joris R. Vermeesch, Kaarel Krjutškov, Andres Salumets, Lauris Kaplinski
Pubblicato in: Scientific Reports, Numero 8/1, 2018, ISSN 2045-2322
Editore: Nature Publishing Group
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Circulating metabolites and general cognitive ability and dementia: Evidence from 11 cohort studies

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Molecular genetic overlap between migraine and major depressive disorder

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk

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Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes

Autori: Angli Xue, Yang Wu, Zhihong Zhu, Futao Zhang, Kathryn E. Kemper, Zhili Zheng, Loic Yengo, Luke R. Lloyd-Jones, Julia Sidorenko, Yeda Wu, Allan F. McRae, Peter M. Visscher, Jian Zeng, Jian Yang
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Signatures of negative selection in the genetic architecture of human complex traits

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IgG glycosylation and DNA methylation are interconnected with smoking

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Noncoding RET variants explain the strong association with Hirschsprung disease in patients without rare coding sequence variant

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Pubblicato in: European Journal of Medical Genetics, 2018, ISSN 1769-7212
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Interethnic analyses of blood pressure loci in populations of East Asian and European descent

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Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

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Endometrial receptivity revisited: endometrial transcriptome adjusted for tissue cellular heterogeneity

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Contributions of mean and shape of blood pressure distribution to worldwide trends and variations in raised blood pressure: a pooled analysis of 1018 population-based measurement studies with 88.6 million participants

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Genes reveal traces of common recent demographic history for most of the Uralic-speaking populations

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Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

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Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study

Autori: Katerina Trajanoska, John A Morris, Ling Oei, Hou-Feng Zheng, David M Evans, Douglas P Kiel, Claes Ohlsson, J Brent Richards, Fernando Rivadeneira
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

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Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Autori: Naomi R. Wray, Stephan Ripke, Manuel Mattheisen, Maciej Trzaskowski, Enda M. Byrne, Abdel Abdellaoui, Mark J. Adams, Esben Agerbo, Tracy M. Air, Till M. F. Andlauer, Silviu-Alin Bacanu, Marie Bækvad-Hansen, Aartjan F. T. Beekman, Tim B. Bigdeli, Elisabeth B. Binder, Douglas R. H. Blackwood, Julien Bryois, Henriette N. Buttenschøn, Jonas Bybjerg-Grauholm, Na Cai, Enrique Castelao, Jane Hvarregaar
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TAC-seq: targeted DNA and RNA sequencing for precise biomarker molecule counting

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A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure

Autori: Yun J. Sung, Thomas W. Winkler, Lisa de las Fuentes, Amy R. Bentley, Michael R. Brown, Aldi T. Kraja, Karen Schwander, Ioanna Ntalla, Xiuqing Guo, Nora Franceschini, Yingchang Lu, Ching-Yu Cheng, Xueling Sim, Dina Vojinovic, Jonathan Marten, Solomon K. Musani, Changwei Li, Mary F. Feitosa, Tuomas O. Kilpeläinen, Melissa A. Richard, Raymond Noordam, Stella Aslibekyan, Hugues Aschard, Traci M. Bart
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Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits

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Autori: John D. Eicher, Nathalie Chami, Tim Kacprowski, Akihiro Nomura, Ming-Huei Chen, Lisa R. Yanek, Salman M. Tajuddin, Ursula M. Schick, Andrew J. Slater, Nathan Pankratz, Linda Polfus, Claudia Schurmann, Ayush Giri, Jennifer A. Brody, Leslie A. Lange, Ani Manichaikul, W. David Hill, Raha Pazoki, Paul Elliot, Evangelos Evangelou, Ioanna Tzoulaki, He Gao, Anne-Claire Vergnaud, Rasika A. Mathia
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Ultra-rare disruptive and damaging mutations influence educational attainment in the general population

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Personalized risk prediction for type 2 diabetes: the potential of genetic risk scores

Autori: Kristi Läll, Reedik Mägi, Andrew Morris, Andres Metspalu, Krista Fischer
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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension

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Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases

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Comprehensive population-based genome sequencing provides insight into hematopoietic regulatory mechanisms

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MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies

Autori: Toomas Haller, Liis Leitsalu, Krista Fischer, Marja-Liisa Nuotio, Tõnu Esko, Dorothea Irene Boomsma, Kirsten Ohm Kyvik, Tim D. Spector, Markus Perola, Andres Metspalu
Pubblicato in: PLOS ONE, Numero 12/1, 2017, Pagina/e e0170325, ISSN 1932-6203
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Pathogenic implications for autoimmune mechanisms derived by comparative eQTL analysis of CD4+ versus CD8+ T cells

Autori: Silva Kasela, Kai Kisand, Liina Tserel, Epp Kaleviste, Anu Remm, Krista Fischer, Tõnu Esko, Harm-Jan Westra, Benjamin P. Fairfax, Seiko Makino, Julian C. Knight, Lude Franke, Andres Metspalu, Pärt Peterson, Lili Milani
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Genome-wide analysis identifies 12 loci influencing human reproductive behavior

Autori: Nicola Barban, Rick Jansen, Ronald de Vlaming, Ahmad Vaez, Jornt J Mandemakers, Felix C Tropf, Xia Shen, James F Wilson, Daniel I Chasman, Ilja M Nolte, Vinicius Tragante, Sander W van der Laan, John R B Perry, Augustine Kong, Tarunveer S Ahluwalia, Eva Albrecht, Laura Yerges-Armstrong, Gil Atzmon, Kirsi Auro, Kristin Ayers, Andrew Bakshi, Danny Ben-Avraham, Klaus Berger, Aviv Bergman, Lars Bertra
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Genetic variants in RBFOX3 are associated with sleep latency

Autori: Najaf Amin, Karla V Allebrandt, Ashley van der Spek, Bertram Müller-Myhsok, Karin Hek, Maris Teder-Laving, Caroline Hayward, Tõnu Esko, Josine G van Mill, Hamdi Mbarek, Nathaniel F Watson, Scott A Melville, Fabiola M Del Greco, Enda M Byrne, Edwin Oole, Ivana Kolcic, Ting-hsu Chen, Daniel S Evans, Josef Coresh, Nicole Vogelzangs, Juha Karjalainen, Gonneke Willemsen, Sina A Gharib, Lina Zgaga, Ev
Pubblicato in: European Journal of Human Genetics, Numero 24/10, 2016, Pagina/e 1488-1495, ISSN 1018-4813
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Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness

Autori: Tim B. Bigdeli, Stephan Ripke, Silviu-Alin Bacanu, Sang Hong Lee, Naomi R. Wray, Pablo V. Gejman, Marcella Rietschel, Sven Cichon, David St Clair, Aiden Corvin, George Kirov, Andrew McQuillin, Hugh Gurling, Dan Rujescu, Ole A. Andreassen, Thomas Werge, Douglas H. R. Blackwood, Carlos N. Pato, Michele T. Pato, Anil K. Malhotra, Michael C. O'Donovan, Kenneth S. Kendler, Ayman H. Fanous
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Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

Autori: Alejandro Cáceres, Tõnu Esko, Irene Pappa, Armand Gutiérrez, Maria-Jose Lopez-Espinosa, Sabrina Llop, Mariona Bustamante, Henning Tiemeier, Andres Metspalu, Peter K. Joshi, James F. Wilsonx, Judith Reina-Castillón, Jean Shin, Zdenka Pausova, Tomáš Paus, Jordi Sunyer, Luis A. Pérez-Jurado, Juan R. González
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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Autori: Debra D’Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M. Maillard, W. Andrew Faucett, Aurélien Macé, Aurélie Pain, Raphael Bernier, Samuel J. R. A. Chawner, Albert David, Joris Andrieux, Elizabeth Aylward, Genevieve Baujat, Ines Caldeira, Philippe Conus, Carrina Ferrari, Francesca Forzano, Marion Gérard, Robin P. Goin-K
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Trends in adult body-mass index in 200 countries from 1975 to 2014: a pooled analysis of 1698 population-based measurement studies with 19·2 million participants

Autori: NCD Risk Factor Collaboration (NCD-RisC)
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Genome-wide association study of serum coenzyme Q 10 levels identifies susceptibility loci linked to neuronal diseases

Autori: Frauke Degenhardt, Petra Niklowitz, Silke Szymczak, Gunnar Jacobs, Wolfgang Lieb, Thomas Menke, Matthias Laudes, Tõnu Esko, Stephan Weidinger, Andre Franke, Frank Döring, Simone Onur
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The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

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Pubblicato in: Nature Genetics, Numero 48/10, 2016, Pagina/e 1171-1184, ISSN 1061-4036
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Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

Autori: David Ellinghaus, Luke Jostins, Sarah L Spain, Adrian Cortes, Jörn Bethune, Buhm Han, Yu Rang Park, Soumya Raychaudhuri, Jennie G Pouget, Matthias Hübenthal, Trine Folseraas, Yunpeng Wang, Tonu Esko, Andres Metspalu, Harm-Jan Westra, Lude Franke, Tune H Pers, Rinse K Weersma, Valerie Collij, Mauro D'Amato, Jonas Halfvarson, Anders Boeck Jensen, Wolfgang Lieb, Franziska Degenhardt, Andreas J Fors
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Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium

Autori: Qiao Fan, Xiaobo Guo, J. Willem L. Tideman, Katie M. Williams, Seyhan Yazar, S. Mohsen Hosseini, Laura D. Howe, Beaté St Pourcain, David M. Evans, Nicholas J. Timpson, George McMahon, Pirro G. Hysi, Eva Krapohl, Ya Xing Wang, Jost B. Jonas, Paul Nigel Baird, Jie Jin Wang, Ching-Yu Cheng, Yik-Ying Teo, Tien-Yin Wong, Xiaohu Ding, Robert Wojciechowski, Terri L. Young, Olavi Pärssinen, Konrad Oexle
Pubblicato in: Scientific Reports, Numero 6/1, 2016, ISSN 2045-2322
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Cardiovascular Risk Factors and Ischemic Heart DiseaseCLINICAL PERSPECTIVE

Autori: Roberto Elosua, Carla Lluís-Ganella, Isaac Subirana, Aki Havulinna, Kristi Läll, Gavin Lucas, Sergi Sayols-Baixeras, Arto Pietilä, Maris Alver, Antonio Cabrera de León, Mariano Sentí, David Siscovick, Olle Mellander, Krista Fischer, Veikko Salomaa, Jaume Marrugat
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Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine

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Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

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The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

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Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

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Targeted Application of Human Genetic Variation Can Improve Red Blood Cell Production from Stem Cells

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Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error

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Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

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The genetic architecture of type 2 diabetes

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A Whole-Blood Transcriptome Meta-Analysis Identifies Gene Expression Signatures of Cigarette Smoking

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Selective sweep on human amylase genes postdates the split with Neanderthals

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Autosomal genetic control of human gene expression does not differ across the sexes

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Single base resolution analysis of 5-hydroxymethylcytosine in 188 human genes: implications for hepatic gene expression

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Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA

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Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan

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Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci

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SOS2 and ACP1 Loci Identified through Large-Scale Exome Chip Analysis Regulate Kidney Development and Function

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Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

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No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis

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Ovarian Physiology and GWAS: Biobanks, Biology, and Beyond

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Testing the role of predicted gene knockouts in human anthropometric trait variation

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Epigenetic profiling in CD4+ and CD8+ T cells from Graves' disease patients reveals changes in genes associated with T cell receptor signaling

Autori: Maia Limbach, Mario Saare, Liina Tserel, Kai Kisand, Triin Eglit, Sascha Sauer, Tomas Axelsson, Ann-Christine Syvänen, Andres Metspalu, Lili Milani, Pärt Peterson
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Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

Autori: Tuomas O. Kilpeläinen, Jayne F. Martin Carli, Alicja A. Skowronski, Qi Sun, Jennifer Kriebel, Mary F Feitosa, Åsa K. Hedman, Alexander W. Drong, James E. Hayes, Jinghua Zhao, Tune H. Pers, Ursula Schick, Niels Grarup, Zoltán Kutalik, Stella Trompet, Massimo Mangino, Kati Kristiansson, Marian Beekman, Leo-Pekka Lyytikäinen, Joel Eriksson, Peter Henneman, Jari Lahti, Toshiko Tanaka, Jian’an Lu
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The Role of the Five-factor Personality Traits in General Self-rated Health

Autori: Liisi Kööts-Ausmees, Monika Schmidt, Tõnu Esko, Andres Metspalu, Jüri Allik, Anu Realo
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Ageing with elegans: a research proposal to map healthspan pathways

Autori: Walter Luyten, Peter Antal, Bart P. Braeckman, Jake Bundy, Francesca Cirulli, Christopher Fang-Yen, Georg Fuellen, Armand Leroi, Qingfei Liu, Patricia Martorell, Andres Metspalu, Markus Perola, Michael Ristow, Nadine Saul, Liliane Schoofs, Karsten Siems, Liesbet Temmerman, Tina Smets, Alicja Wolk, Suresh I. S. Rattan
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New loci for body fat percentage reveal link between adiposity and cardiometabolic disease risk

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Genome-Wide Meta-Analysis of Sciatica in Finnish Population

Autori: Susanna Lemmelä, Svetlana Solovieva, Rahman Shiri, Christian Benner, Markku Heliövaara, Johannes Kettunen, Verneri Anttila, Samuli Ripatti, Markus Perola, Ilkka Seppälä, Markus Juonala, Mika Kähönen, Veikko Salomaa, Jorma Viikari, Olli T. Raitakari, Terho Lehtimäki, Aarno Palotie, Eira Viikari-Juntura, Kirsti Husgafvel-Pursiainen
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16p11.2 Locus modulates response to satiety before the onset of obesity

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Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

Autori: Divya Mehta, Felix C. Tropf, Jacob Gratten, Andrew Bakshi, Zhihong Zhu, Silviu-Alin Bacanu, Gibran Hemani, Patrik K. E. Magnusson, Nicola Barban, Tõnu Esko, Andres Metspalu, Harold Snieder, Bryan J. Mowry, Kenneth S. Kendler, Jian Yang, Peter M. Visscher, John J. McGrath, Melinda C. Mills, Naomi R. Wray, S. Hong Lee, Ole A. Andreassen, Elvira Bramon, Richard Bruggeman, Joseph D. Buxbaum, Murray J
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Genetic variants associated with subjective well-being, depressive symptoms, and neuroticism identified through genome-wide analyses

Autori: Aysu Okbay, Bart M L Baselmans, Jan-Emmanuel De Neve, Patrick Turley, Michel G Nivard, Mark Alan Fontana, S Fleur W Meddens, Richard Karlsson Linnér, Cornelius A Rietveld, Jaime Derringer, Jacob Gratten, James J Lee, Jimmy Z Liu, Ronald de Vlaming, Tarunveer S Ahluwalia, Jadwiga Buchwald, Alana Cavadino, Alexis C Frazier-Wood, Nicholas A Furlotte, Victoria Garfield, Marie Henrike Geisel, Juan R G
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Genome-wide association study identifies 74 loci associated with educational attainment

Autori: Aysu Okbay, Jonathan P. Beauchamp, Mark Alan Fontana, James J. Lee, Tune H. Pers, Cornelius A. Rietveld, Patrick Turley, Guo-Bo Chen, Valur Emilsson, S. Fleur W. Meddens, Sven Oskarsson, Joseph K. Pickrell, Kevin Thom, Pascal Timshel, Ronald de Vlaming, Abdel Abdellaoui, Tarunveer S. Ahluwalia, Jonas Bacelis, Clemens Baumbach, Gyda Bjornsdottir, Johannes H. Brandsma, Maria Pina Concas, Jaime Derri
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Coding Variation in ANGPTL4, LPL, and SVEP1 and the Risk of Coronary Disease

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Genetic variants linked to education predict longevity

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Genomic analyses inform on migration events during the peopling of Eurasia

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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

Autori: Sander Pajusalu, Inga Talvik, Klari Noormets, Tiina Talvik, Haide Põder, Kairit Joost, Sanna Puusepp, Andres Piirsoo, Werner Stenzel, Hans H. Goebel, Tiit Nikopensius, Tarmo Annilo, Margit Nõukas, Andres Metspalu, Katrin Õunap, Tiia Reimand
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A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

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Metabolites of milk intake: a metabolomic approach in UK twins with findings replicated in two European cohorts

Autori: Tess Pallister, Toomas Haller, Barbara Thorand, Elisabeth Altmaier, Aedin Cassidy, Tiphaine Martin, Amy Jennings, Robert P. Mohney, Christian Gieger, Alexander MacGregor, Gabi Kastenmüller, Andres Metspalu, Tim D. Spector, Cristina Menni
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Whole-genome expression analysis reveals genes associated with treatment response to escitalopram in major depression

Autori: Kristi Pettai, Lili Milani, Anu Tammiste, Urmo Võsa, Raivo Kolde, Triin Eller, David Nutt, Andres Metspalu, Eduard Maron
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Autori: Cristian Pattaro, Alexander Teumer, Mathias Gorski, Audrey Y. Chu, Man Li, Vladan Mijatovic, Maija Garnaas, Adrienne Tin, Rossella Sorice, Yong Li, Daniel Taliun, Matthias Olden, Meredith Foster, Qiong Yang, Ming-Huei Chen, Tune H. Pers, Andrew D. Johnson, Yi-An Ko, Christian Fuchsberger, Bamidele Tayo, Michael Nalls, Mary F. Feitosa, Aaron Isaacs, Abbas Dehghan, Pio d’Adamo, Adebowale Adeyemo,
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Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Autori: Linda M. Polfus, Rajiv K. Khajuria, Ursula M. Schick, Nathan Pankratz, Raha Pazoki, Jennifer A. Brody, Ming-Huei Chen, Paul L. Auer, James S. Floyd, Jie Huang, Leslie Lange, Frank J.A. van Rooij, Richard A. Gibbs, Ginger Metcalf, Donna Muzny, Narayanan Veeraraghavan, Klaudia Walter, Lu Chen, Lisa Yanek, Lewis C. Becker, Gina M. Peloso, Aoi Wakabayashi, Mart Kals, Andres Metspalu, Tõnu
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Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture

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Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory

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Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

Autori: Harmen H. M. Draisma, René Pool, Michael Kobl, Rick Jansen, Ann-Kristin Petersen, Anika A. M. Vaarhorst, Idil Yet, Toomas Haller, Ayşe Demirkan, Tõnu Esko, Gu Zhu, Stefan Böhringer, Marian Beekman, Jan Bert van Klinken, Werner Römisch-Margl, Cornelia Prehn, Jerzy Adamski, Anton J. M. de Craen, Elisabeth M. van Leeuwen, Najaf Amin, Harish Dharuri, Harm-Jan Westra, Lude Franke, Eco J. C. de Geus, Jouke Jan Hottenga, Gonneke Willemsen, Anjali K. Henders, Grant W. Montgomery, Dale R. Nyholt, John B. Whitfield, Brenda W. Penninx, Tim D. Spector, Andres Metspalu, P. Eline Slagboom, Ko Willems van Dijk, Peter A. C. ‘t Hoen, Konstantin Strauch, Nicholas G. Martin, Gert-Jan B. van Ommen, Thomas Illig, Jordana T. Bell, Massimo Mangino, Karsten Suhre, Mark I. McCarthy, Christian Gieger, Aaron Isaacs, Cornelia M. van Duijn, Dorret I. Boomsma
Pubblicato in: Nature Communications, Numero 20411723, 2015, Pagina/e 7208, ISSN 2041-1723
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CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

Autori: Margus Putku, Mart Kals, Rain Inno, Silva Kasela, Elin Org, Viktor Kožich, Lili Milani, Maris Laan
Pubblicato in: Human Genetics, Numero 03406717, 2015, Pagina/e 291-303, ISSN 0340-6717
Editore: Springer Verlag
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Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course

Autori: M. Graff, J. S. Ngwa, T. Workalemahu, G. Homuth, S. Schipf, A. Teumer, H. Volzke, H. Wallaschofski, G. R. Abecasis, L. Edward, C. Francesco, S. Sanna, P. Scheet, D. Schlessinger, C. Sidore, X. Xiao, Z. Wang, S. J. Chanock, K. B. Jacobs, R. B. Hayes, F. Hu, R. M. Van Dam, R. J. Crout, M. L. Marazita, J. R. Shaffer, L. D. Atwood, C. S. Fox, N. L. Heard-Costa, C. White, A. C. Choh, S. A. Czerwinski, E. W. Demerath, T. D. Dyer, B. Towne, N. Amin, B. A. Oostra, C. M. Van Duijn, M. C. Zillikens, T. Esko, M. Nelis, T. Nikopensius, A. Metspalu, D. P. Strachan, K. Monda, L. Qi, K. E. North, L. A. Cupples, P. Gordon-Larsen, S. I. Berndt
Pubblicato in: Human Molecular Genetics, Numero 09646906, 2013, Pagina/e 3597-3607, ISSN 0964-6906
Editore: Oxford University Press
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The Role of Adiposity in Cardiometabolic Traits: A Mendelian Randomization Analysis

Autori: Tove Fall, Sara Hägg, Reedik Mägi, Alexander Ploner, Krista Fischer, Momoko Horikoshi, Antti-Pekka Sarin, Gudmar Thorleifsson, Claes Ladenvall, Mart Kals, Maris Kuningas, Harmen H. M. Draisma, Janina S. Ried, Natalie R. van Zuydam, Ville Huikari, Massimo Mangino, Emily Sonestedt, Beben Benyamin, Christopher P. Nelson, Natalia V. Rivera, Kati Kristiansson, Huei-yi Shen, Aki S. Havulinna, Abbas Dehghan, Louise A. Donnelly, Marika Kaakinen, Marja-Liisa Nuotio, Neil Robertson, Renée F. A. G. de Bruijn, M. Arfan Ikram, Najaf Amin, Anthony J. Balmforth, Peter S. Braund, Alexander S. F. Doney, Angela Döring, Paul Elliott, Tõnu Esko, Oscar H. Franco, Solveig Gretarsdottir, Anna-Liisa Hartikainen, Kauko Heikkilä, Karl-Heinz Herzig, Hilma Holm, Jouke Jan Hottenga, Elina Hyppönen, Thomas Illig, Aaron Isaacs, Bo Isomaa, Lennart C. Karssen, Johannes Kettunen, Wolfgang Koenig, Kari Kuulasmaa, Tiina Laatikainen, Jaana Laitinen, Cecilia Lindgren, Valeriya Lyssenko, Esa Läärä, Nigel W. Rayner, Satu Männistö, Anneli Pouta, Wolfgang Rathmann, Fernando Rivadeneira, Aimo Ruokonen, Markku J. Savolainen, Eric J. G. Sijbrands, Kerrin S. Small, Jan H. Smit, Valgerdur Steinthorsdottir, Ann-Christine Syvänen, Anja Taanila, Martin D. Tobin, Andre G. Uitterlinden, Sara M. Willems, Gonneke Willemsen, Jacqueline Witteman, Markus Perola, Alun Evans, Jean Ferrières, Jarmo Virtamo, Frank Kee, David-Alexandre Tregouet, Dominique Arveiler, Philippe Amouyel, Marco M. Ferrario, Paolo Brambilla, Alistair S. Hall, Andrew C. Heath, Pamela A. F. Madden, Nicholas G. Martin, Grant W. Montgomery, John B. Whitfield, Antti Jula, Paul Knekt, Ben Oostra, Cornelia M. van Duijn, Brenda W. J. H. Penninx, George Davey Smith, Jaakko Kaprio, Nilesh J. Samani, Christian Gieger, Annette Peters, H.-Erich Wichmann, Dorret I. Boomsma, Eco J. C. de Geus, TiinaMaija Tuomi, Chris Power, Christopher J. Hammond, Tim D. Spector, Lars Lind, Marju Orho-Melander, Colin Neil Alexander Palmer, Andrew D. Morris, Leif Groop, Marjo-Riitta Järvelin, Veikko Salomaa, Erkki Vartiainen, Albert Hofman, Samuli Ripatti, Andres Metspalu, Unnur Thorsteinsdottir, Kari Stefansson, Nancy L. Pedersen, Mark I. McCarthy, Erik Ingelsson, Inga Prokopenko
Pubblicato in: PLoS Medicine, Numero 15491676, 2013, Pagina/e e1001474, ISSN 1549-1676
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Defining the role of common variation in the genomic and biological architecture of adult human height

Autori: Andrew R Wood, Tonu Esko, Jian Yang, Sailaja Vedantam, Tune H Pers, Stefan Gustafsson, Audrey Y Chu, Karol Estrada, Jian'an Luan, Zoltán Kutalik, Najaf Amin, Martin L Buchkovich, Damien C Croteau-Chonka, Felix R Day, Yanan Duan, Tove Fall, Rudolf Fehrmann, Teresa Ferreira, Anne U Jackson, Juha Karjalainen, Ken Sin Lo, Adam E Locke, Reedik Mägi, Evelin Mihailov, Eleonora Porcu, Joshua C Randall, André Scherag, Anna A E Vinkhuyzen, Harm-Jan Westra, Thomas W Winkler, Tsegaselassie Workalemahu, Jing Hua Zhao, Devin Absher, Eva Albrecht, Denise Anderson, Jeffrey Baron, Marian Beekman, Ayse Demirkan, Georg B Ehret, Bjarke Feenstra, Mary F Feitosa, Krista Fischer, Ross M Fraser, Anuj Goel, Jian Gong, Anne E Justice, Stavroula Kanoni, Marcus E Kleber, Kati Kristiansson, Unhee Lim, Vaneet Lotay, Julian C Lui, Massimo Mangino, Irene Mateo Leach, Carolina Medina-Gomez, Michael A Nalls, Dale R Nyholt, Cameron D Palmer, Dorota Pasko, Sonali Pechlivanis, Inga Prokopenko, Janina S Ried, Stephan Ripke, Dmitry Shungin, Alena Stancáková, Rona J Strawbridge, Yun Ju Sung, Toshiko Tanaka, Alexander Teumer, Stella Trompet, Sander W van der Laan, Jessica van Setten, Jana V Van Vliet-Ostaptchouk, Zhaoming Wang, Loïc Yengo, Weihua Zhang, Uzma Afzal, Johan Ärnlöv, Gillian M Arscott, Stefania Bandinelli, Amy Barrett, Claire Bellis, Amanda J Bennett, Christian Berne, Matthias Blüher, Jennifer L Bolton, Yvonne Böttcher, Heather A Boyd, Marcel Bruinenberg, Brendan M Buckley, Steven Buyske, Ida H Caspersen, Peter S Chines, Robert Clarke, Simone Claudi-Boehm, Matthew Cooper, E Warwick Daw, Pim A De Jong, Joris Deelen, Graciela Delgado, Josh C Denny, Rosalie Dhonukshe-Rutten, Maria Dimitriou, Alex S F Doney, Marcus Dörr, Niina Eklund, Elodie Eury, Lasse Folkersen, Melissa E Garcia, Frank Geller, Vilmantas Giedraitis, Alan S Go, Harald Grallert, Tanja B Grammer, Jürgen Gräßler, Henrik Grönberg, Lisette C P G M de Groot, Christopher J Groves, Jeffrey Haessler, Per Hall, Toomas Haller, Goran Hallmans, Anke Hannemann, Catharina A Hartman, Maija Hassinen, Caroline Hayward, Nancy L Heard-Costa, Quinta Helmer, Gibran Hemani, Anjali K Henders, Hans L Hillege, Mark A Hlatky, Wolfgang Hoffmann, Per Hoffmann, Oddgeir Holmen, Jeanine J Houwing-Duistermaat, Thomas Illig, Aaron Isaacs, Alan L James, Janina Jeff, Berit Johansen, Åsa Johansson, Jennifer Jolley, Thorhildur Juliusdottir, Juhani Junttila, Abel N Kho, Leena Kinnunen, Norman Klopp, Thomas Kocher, Wolfgang Kratzer, Peter Lichtner, Lars Lind, Jaana Lindström, Stéphane Lobbens, Mattias Lorentzon, Yingchang Lu, Valeriya Lyssenko, Patrik K E Magnusson, Anubha Mahajan, Marc Maillard, Wendy L McArdle, Colin A McKenzie, Stela McLachlan, Paul J McLaren, Cristina Menni, Sigrun Merger, Lili Milani, Alireza Moayyeri, Keri L Monda, Mario A Morken, Gabriele Müller, Martina Müller-Nurasyid, Arthur W Musk, Narisu Narisu, Matthias Nauck, Ilja M Nolte, Markus M Nöthen, Laticia Oozageer, Stefan Pilz, Nigel W Rayner, Frida Renstrom, Neil R Robertson, Lynda M Rose, Ronan Roussel, Serena Sanna, Hubert Scharnagl, Salome Scholtens, Fredrick R Schumacher, Heribert Schunkert, Robert A Scott, Joban Sehmi, Thomas Seufferlein, Jianxin Shi, Karri Silventoinen, Johannes H Smit, Albert Vernon Smith, Joanna Smolonska, Alice V Stanton, Kathleen Stirrups, David J Stott, Heather M Stringham, Johan Sundström, Morris A Swertz, Ann-Christine Syvänen, Bamidele O Tayo, Gudmar Thorleifsson, Jonathan P Tyrer, Suzanne van Dijk, Natasja M van Schoor, Nathalie van der Velde, Diana van Heemst, Floor V A van Oort, Sita H Vermeulen, Niek Verweij, Judith M Vonk, Lindsay L Waite, Melanie Waldenberger, Roman Wennauer, Lynne R Wilkens, Christina Willenborg, Tom Wilsgaard, Mary K Wojczynski, Andrew Wong, Alan F Wright, Qunyuan Zhang, Dominique Arveiler, Stephan J L Bakker, John Beilby, Richard N Bergman, Sven Bergmann, Reiner Biffar, John Blangero, Dorret I Boomsma, Stefan R Bornstein, Pascal Bovet, Paolo Brambilla, Morris J Brown, Harry Campb
Pubblicato in: Nature Genetics, Numero 10614036, 2014, Pagina/e 1173-1186, ISSN 1061-4036
Editore: Nature Publishing Group
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Copy Number Variations and Cognitive Phenotypes in Unselected Populations

Autori: Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L. Guyatt, Hashem A. Shihab, Anne M. Maillard, Helene Alavere, Anneli Kolk, Anu Reigo, Evelin Mihailov, Liis Leitsalu, Anne-Maud Ferreira, Margit Nõukas, Alexander Teumer, Erika Salvi, Daniele Cusi, Matt McGue, William G. Iacono, Tom R. Gaunt, Jacques S. Beckmann, Sébastien Jacquemont, Zoltán Kutalik, Nathan Pankratz, Nicholas Timpson, Andres Metspalu, Alexandre Reymond
Pubblicato in: JAMA, Numero 00987484, 2015, Pagina/e 2044, ISSN 0098-7484
Editore: American Medical Association
DOI: 10.1001/jama.2015.4845

Gene-based meta-analysis of genome-wide association studies implicates new loci involved in obesity

Autori: Sara Hägg, Andrea Ganna, Sander W. Van Der Laan, Tonu Esko, Tune H. Pers, Adam E. Locke, Sonja I. Berndt, Anne E. Justice, Bratati Kahali, Marten A. Siemelink, Gerard Pasterkamp, David P. Strachan, Elizabeth K. Speliotes, Kari E. North, Ruth J.F. Loos, Joel N. Hirschhorn, Yudi Pawitan, Erik Ingelsson
Pubblicato in: Human Molecular Genetics, Numero 09646906, 2015, Pagina/e 6849-6860, ISSN 0964-6906
Editore: Oxford University Press
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Oral health, dental care and mouthwash associated with upper aerodigestive tract cancer risk in Europe: The ARCAGE study

Autori: Wolfgang Ahrens, Hermann Pohlabeln, Ronja Foraita, Mari Nelis, Pagona Lagiou, Areti Lagiou, Christine Bouchardy, Alena Slamova, Miriam Schejbalova, Franco Merletti, Lorenzo Richiardi, Kristina Kjaerheim, Antonio Agudo, Xavier Castellsague, Tatiana V. Macfarlane, Gary J. Macfarlane, Yuan-Chin Amy Lee, Renato Talamini, Luigi Barzan, Cristina Canova, Lorenzo Simonato, Peter Thomson, Patricia A. McKinney, Alex D. McMahon, Ariana Znaor, Claire M. Healy, Bernad E. McCartan, Andres Metspalu, Manuela Marron, Mia Hashibe, David I. Conway, Paul Brennan
Pubblicato in: Oral Oncology, Numero 13688375, 2014, Pagina/e 616-625, ISSN 1368-8375
Editore: Pergamon Press Ltd.
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From pharmacogenetics to pharmacometabolomics: SAM modulates TPMT activity

Autori: Nataša Karas-Kuželički, Alenka Šmid, Riin Tamm, Andres Metspalu, Irena Mlinarič-Raščan
Pubblicato in: Pharmacogenomics, Numero 14622416, 2014, Pagina/e 1437-1449, ISSN 1462-2416
Editore: Ashley Publications Ltd.
DOI: 10.2217/pgs.14.84

Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts

Autori: Georg Homuth, Simone Wahl, Christian Müller, Claudia Schurmann, Ulrike Mäder, Stefan Blankenberg, Maren Carstensen, Marcus Dörr, Karlhans Endlich, Christian Englbrecht, Stephan B. Felix, Christian Gieger, Harald Grallert, Christian Herder, Thomas Illig, Jochen Kruppa, Carola S. Marzi, Julia Mayerle, Thomas Meitinger, Andres Metspalu, Matthias Nauck, Annette Peters, Wolfgang Rathmann, Eva Reinmaa, Rainer Rettig, Michael Roden, Arne Schillert, Katharina Schramm, Leif Steil, Konstantin Strauch, Alexander Teumer, Henry Völzke, Henri Wallaschofski, Philipp S. Wild, Andreas Ziegler, Uwe Völker, Holger Prokisch, Tanja Zeller
Pubblicato in: BMC Medical Genomics, Numero 17558794, 2015, ISSN 1755-8794
Editore: BioMed Central
DOI: 10.1186/s12920-015-0141-x

Linking a Population Biobank with National Health Registries—The Estonian Experience

Autori: Liis Leitsalu, Helene Alavere, Mari-Liis Tammesoo, Erkki Leego, Andres Metspalu
Pubblicato in: Journal of Personalized Medicine, Numero 20754426, 2015, Pagina/e 96-106, ISSN 2075-4426
Editore: MDPI AG
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Identification of seven loci affecting mean telomere length and their association with disease

Autori: Veryan Codd, Christopher P Nelson, Eva Albrecht, Massimo Mangino, Joris Deelen, Jessica L Buxton, Jouke Jan Hottenga, Krista Fischer, Tõnu Esko, Ida Surakka, Linda Broer, Dale R Nyholt, Irene Mateo Leach, Perttu Salo, Sara Hägg, Mary K Matthews, Jutta Palmen, Giuseppe D Norata, Paul F O'Reilly, Danish Saleheen, Najaf Amin, Anthony J Balmforth, Marian Beekman, Rudolf A de Boer, Stefan Böhringer, Peter S Braund, Paul R Burton, Anton J Mde Craen, Matthew Denniff, Yanbin Dong, Konstantinos Douroudis, Elena Dubinina, Johan G Eriksson, Katia Garlaschelli, Dehuang Guo, Anna-Liisa Hartikainen, Anjali K Henders, Jeanine J Houwing-Duistermaat, Laura Kananen, Lennart C Karssen, Johannes Kettunen, Norman Klopp, Vasiliki Lagou, Elisabeth M van Leeuwen, Pamela A Madden, Reedik Mägi, Patrik K E Magnusson, Satu Männistö, Mark I McCarthy, Sarah E Medland, Evelin Mihailov, Grant W Montgomery, Ben A Oostra, Aarno Palotie, Annette Peters, Helen Pollard, Anneli Pouta, Inga Prokopenko, Samuli Ripatti, Veikko Salomaa, H Eka D Suchiman, Ana M Valdes, Niek Verweij, Ana Viñuela, Xiaoling Wang, H-Erich Wichmann, Elisabeth Widen, Gonneke Willemsen, Margaret J Wright, Kai Xia, Xiangjun Xiao, Dirk J van Veldhuisen, Alberico L Catapano, Martin D Tobin, Alistair S Hall, Alexandra I F Blakemore, Wiek H van Gilst, Haidong Zhu, CARDIoGRAM consortium, Jeanette Erdmann, Muredach P Reilly, Sekar Kathiresan, Heribert Schunkert, Philippa J Talmud, Nancy L Pedersen, Markus Perola, Willem Ouwehand, Jaakko Kaprio, Nicholas G Martin, Cornelia M van Duijn, Iiris Hovatta, Christian Gieger, Andres Metspalu, Dorret I Boomsma, Marjo-Riitta Jarvelin, P Eline Slagboom, John R Thompson, Tim D Spector, Pim van der Harst, Nilesh J Samani
Pubblicato in: Nature Genetics, Numero 10614036, 2013, Pagina/e 422-427, ISSN 1061-4036
Editore: Nature Publishing Group
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Population genetic differentiation of height and body mass index across Europe

Autori: Matthew R Robinson, Gibran Hemani, Carolina Medina-Gomez, Massimo Mezzavilla, Tonu Esko, Konstantin Shakhbazov, Joseph E Powell, Anna Vinkhuyzen, Sonja I Berndt, Stefan Gustafsson, Anne E Justice, Bratati Kahali, Adam E Locke, Tune H Pers, Sailaja Vedantam, Andrew R Wood, Wouter van Rheenen, Ole A Andreassen, Paolo Gasparini, Andres Metspalu, Leonard H van den Berg, Jan H Veldink, Fernando Rivadeneira, Thomas M Werge, Goncalo R Abecasis, Dorret I Boomsma, Daniel I Chasman, Eco J C de Geus, Timothy M Frayling, Joel N Hirschhorn, Jouke Jan Hottenga, Erik Ingelsson, Ruth J F Loos, Patrik K E Magnusson, Nicholas G Martin, Grant W Montgomery, Kari E North, Nancy L Pedersen, Timothy D Spector, Elizabeth K Speliotes, Michael E Goddard, Jian Yang, Peter M Visscher
Pubblicato in: Nature Genetics, Numero 10614036, 2015, Pagina/e 1357-1362, ISSN 1061-4036
Editore: Nature Publishing Group
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Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans

Autori: Jennifer E. Huffman, Eva Albrecht, Alexander Teumer, Massimo Mangino, Karen Kapur, Toby Johnson, Zoltán Kutalik, Nicola Pirastu, Giorgio Pistis, Lorna M. Lopez, Toomas Haller, Perttu Salo, Anuj Goel, Man Li, Toshiko Tanaka, Abbas Dehghan, Daniela Ruggiero, Giovanni Malerba, Albert V. Smith, Ilja M. Nolte, Laura Portas, Amanda Phipps-Green, Lora Boteva, Pau Navarro, Asa Johansson, Andrew A. Hicks, Ozren Polasek, Tõnu Esko, John F. Peden, Sarah E. Harris, Federico Murgia, Sarah H. Wild, Albert Tenesa, Adrienne Tin, Evelin Mihailov, Anne Grotevendt, Gauti K. Gislason, Josef Coresh, Pio D'Adamo, Sheila Ulivi, Peter Vollenweider, Gerard Waeber, Susan Campbell, Ivana Kolcic, Krista Fisher, Margus Viigimaa, Jeffrey E. Metter, Corrado Masciullo, Elisabetta Trabetti, Cristina Bombieri, Rossella Sorice, Angela Döring, Eva Reischl, Konstantin Strauch, Albert Hofman, Andre G. Uitterlinden, Melanie Waldenberger, H-Erich Wichmann, Gail Davies, Alan J. Gow, Nicola Dalbeth, Lisa Stamp, Johannes H. Smit, Mirna Kirin, Ramaiah Nagaraja, Matthias Nauck, Claudia Schurmann, Kathrin Budde, Susan M. Farrington, Evropi Theodoratou, Antti Jula, Veikko Salomaa, Cinzia Sala, Christian Hengstenberg, Michel Burnier, Reedik Mägi, Norman Klopp, Stefan Kloiber, Sabine Schipf, Samuli Ripatti, Stefano Cabras, Nicole Soranzo, Georg Homuth, Teresa Nutile, Patricia B. Munroe, Nicholas Hastie, Harry Campbell, Igor Rudan, Claudia Cabrera, Chris Haley, Oscar H. Franco, Tony R. Merriman, Vilmundur Gudnason, Mario Pirastu, Brenda W. Penninx, Harold Snieder, Andres Metspalu, Marina Ciullo, Peter P. Pramstaller, Cornelia M. van Duijn, Luigi Ferrucci, Giovanni Gambaro, Ian J. Deary, Malcolm G. Dunlop, James F. Wilson, Paolo Gasparini, Ulf Gyllensten, Tim D. Spector, Alan F. Wright, Caroline Hayward, Hugh Watkins, Markus Perola, Murielle Bochud, W. H. Linda Kao, Mark Caulfield, Daniela Toniolo, Henry Völzke, Christian Gieger, Anna Köttgen, Veronique Vitart
Pubblicato in: PLOS ONE, Numero 19326203, 2015, Pagina/e e0119752, ISSN 1932-6203
Editore: Public Library of Science
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Copper Metabolism Domain-Containing 1 Represses Genes That Promote Inflammation and Protects Mice From Colitis and Colitis-Associated Cancer

Autori: Haiying Li, Lillienne Chan, Paulina Bartuzi, Shelby D. Melton, Axel Weber, Shani Ben–Shlomo, Chen Varol, Megan Raetz, Xicheng Mao, Petro Starokadomskyy, Suzanne van Sommeren, Mohamad Mokadem, Heike Schneider, Reid Weisberg, Harm-Jan Westra, Tõnu Esko, Andres Metspalu, Vinod Kumar, William A. Faubion, Felix Yarovinsky, Marten Hofker, Cisca Wijmenga, Michael Kracht, Lude Franke, Vincent Aguirre, Rinse K. Weersma, Nathan Gluck, Bart van de Sluis, Ezra Burstein
Pubblicato in: Gastroenterology, Numero 00165085, 2014, Pagina/e 184-195.e3, ISSN 0016-5085
Editore: W. B. Saunders Co., Ltd.
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BBMRI-ERIC as a resource for pharmaceutical and life science industries: the development of biobank-based Expert Centres

Autori: Gert-Jan B van Ommen, Outi Törnwall, Christian Bréchot, Georges Dagher, Joakim Galli, Kristian Hveem, Ulf Landegren, Claudio Luchinat, Andres Metspalu, Cecilia Nilsson, Ove V Solesvik, Markus Perola, Jan-Eric Litton, Kurt Zatloukal
Pubblicato in: European Journal of Human Genetics, Numero 10184813, 2014, Pagina/e 893-900, ISSN 1018-4813
Editore: Natue Publishing Group
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Cumulative Small Effect Genetic Markers and the Risk of Colorectal Cancer in Poland, Estonia, Lithuania, and Latvia

Autori: Pablo Serrano-Fernandez, Dagmara Dymerska, Grzegorz Kurzawski, Róża Derkacz, Tatiana Sobieszczańska, Zbigniew Banaszkiewicz, Hanno Roomere, Eneli Oitmaa, Andres Metspalu, Ramūnas Janavičius, Pavel Elsakov, Mindaugas Razumas, Kestutis Petrulis, Arvīds Irmejs, Edvīns Miklaševičs, Rodney J. Scott, Jan Lubiński
Pubblicato in: Gastroenterology Research and Practice, Numero 16876121, 2015, Pagina/e 1-10, ISSN 1687-6121
Editore: Hindawi Publishing Corporation
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Ontogeny, distribution and potential roles of 5-hydroxymethylcytosine in human liver function

Autori: Maxim Ivanov, Mart Kals, Marina Kacevska, Isabel Barragan, Kie Kasuga, Anders Rane, Andres Metspalu, Lili Milani, Magnus Ingelman-Sundberg
Pubblicato in: Genome Biology, Numero 14656906, 2013, Pagina/e R83, ISSN 1465-6906
Editore: BioMed Central
DOI: 10.1186/gb-2013-14-8-r83

Human Disease-Associated Genetic Variation Impacts Large Intergenic Non-Coding RNA Expression

Autori: Vinod Kumar, Harm-Jan Westra, Juha Karjalainen, Daria V. Zhernakova, Tõnu Esko, Barbara Hrdlickova, Rodrigo Almeida, Alexandra Zhernakova, Eva Reinmaa, Urmo Võsa, Marten H. Hofker, Rudolf S. N. Fehrmann, Jingyuan Fu, Sebo Withoff, Andres Metspalu, Lude Franke, Cisca Wijmenga
Pubblicato in: PLoS Genetics, Numero 15537404, 2013, Pagina/e e1003201, ISSN 1553-7404
Editore: PLOS
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Association of Adiposity Genetic Variants With Menarche Timing in 92,105 Women of European Descent

Autori: L. Fernandez-Rhodes, E. W. Demerath, D. L. Cousminer, R. Tao, J. G. Dreyfus, T. Esko, A. V. Smith, V. Gudnason, T. B. Harris, L. Launer, P. F. McArdle, L. M. Yerges-Armstrong, C. E. Elks, D. P. Strachan, Z. Kutalik, P. Vollenweider, B. Feenstra, H. A. Boyd, A. Metspalu, E. Mihailov, L. Broer, M. C. Zillikens, B. Oostra, C. M. van Duijn, K. L. Lunetta, J. R. B. Perry, A. Murray, D. L. Koller, D. Lai, T. Corre, D. Toniolo, E. Albrecht, D. Stockl, H. Grallert, C. Gieger, C. Hayward, O. Polasek, I. Rudan, J. F. Wilson, C. He, P. Kraft, F. B. Hu, D. J. Hunter, J.-J. Hottenga, G. Willemsen, D. I. Boomsma, E. M. Byrne, N. G. Martin, G. W. Montgomery, N. M. Warrington, C. E. Pennell, L. Stolk, J. A. Visser, A. Hofman, A. G. Uitterlinden, F. Rivadeneira, P. Lin, S. L. Fisher, L. J. Bierut, L. Crisponi, E. Porcu, M. Mangino, G. Zhai, T. D. Spector, J. E. Buring, L. M. Rose, P. M. Ridker, C. Poole, J. N. Hirschhorn, J. M. Murabito, D. I. Chasman, E. Widen, K. E. North, K. K. Ong, N. Franceschini
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Can selenium levels act as a marker of colorectal cancer risk?

Autori: Marcin R Lener, Satish Gupta, Rodney J Scott, Martin Tootsi, Maria Kulp, Mari-Liis Tammesoo, Anu Viitak, Anders Metspalu, Pablo Serrano-Fernández, Józef Kładny, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Magdalena Muszyńska, Grzegorz Sukiennicki, Anna Jakubowska, Jan Lubiński
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The relationship between the Five-Factor Model personality traits and peptic ulcer disease in a large population-based adult sample

Autori: Anu Realo, Andero Teras, Liisi Kööts-Ausmees, Tõnu Esko, Andres Metspalu, Jüri Allik
Pubblicato in: Scandinavian Journal of Psychology, Numero 00365564, 2015, Pagina/e 693-699, ISSN 0036-5564
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Identification of lung cancer histology-specific variants applying Bayesian framework variant prioritization approaches within the TRICL and ILCCO consortia

Autori: Darren R. Brenner, Christopher I. Amos, Yonathan Brhane, Maria N. Timofeeva, Neil Caporaso, Yufei Wang, David C. Christiani, Heike Bickeböller, Ping Yang, Demetrius Albanes, Victoria L. Stevens, Susan Gapstur, James McKay, Paolo Boffetta, David Zaridze, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, Hans E. Krokan, Frank Skorpen, Maiken E. Gabrielsen, Lars Vatten, Inger Njølstad, Chu Chen, Gary Goodman, Mark Lathrop, Tõnu Vooder, Kristjan Välk, Mari Nelis, Andres Metspalu, Peter Broderick, Timothy Eisen, Xifeng Wu, Di Zhang, Wei Chen, Margaret R. Spitz, Yongyue Wei, Li Su, Dong Xie, Jun She, Keitaro Matsuo, Fumihiko Matsuda, Hidemi Ito, Angela Risch, Joachim Heinrich, Albert Rosenberger, Thomas Muley, Hendrik Dienemann, John K. Field, Olaide Raji, Ying Chen, John Gosney, Triantafillos Liloglou, Michael P.A. Davies, Michael Marcus, John McLaughlin, Irene Orlow, Younghun Han, Yafang Li, Xuchen Zong, Mattias Johansson, Geoffrey Liu, Shelley S. Tworoger, Loic Le Marchand, Brian E. Henderson, Lynne R. Wilkens, Juncheng Dai, Hongbing Shen, Richard S. Houlston, Maria T. Landi, Paul Brennan, Rayjean J. Hung
Pubblicato in: Carcinogenesis, Numero 01433334, 2015, Pagina/e 1314-1326, ISSN 0143-3334
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Genetic variants of inducible costimulator are associated with allergic asthma susceptibility

Autori: Anand Kumar Andiappan, Sriram Narayanan, Rachel A. Myers, Bernett Lee, Maartje A. Nieuwenhuis, Alessandra Nardin, Choon-Sik Park, Hyoung Doo Shin, Jeong-Hyun Kim, Harm-Jan Westra, Lude Franke, Tonu Esko, Andres Metspalu, Yik-Ying Teo, Seang Mei Saw, Chiea Chuen Khor, Jianjun Liu, Gerard H. Koppelman, Dirkje S. Postma, Michael Poidinger, John E. Connolly, De Yun Wang, Olaf Rotzschke, Maria A. Curotto de Lafaille, Fook Tim Chew
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Tissue-specific mitochondrial heteroplasmy at position 16,093 within the same individual

Autori: Kaarel Krjutškov, Marina Koltšina, Kelli Grand, Urmo Võsa, Martin Sauk, Neeme Tõnisson, Andres Salumets
Pubblicato in: Current Genetics, Numero 01728083, 2014, Pagina/e 11-16, ISSN 0172-8083
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Directional dominance on stature and cognition in diverse human populations

Autori: Peter K. Joshi, Tonu Esko, Hannele Mattsson, Niina Eklund, Ilaria Gandin, Teresa Nutile, Anne U. Jackson, Claudia Schurmann, Albert V. Smith, Weihua Zhang, Yukinori Okada, Alena Stančáková, Jessica D. Faul, Wei Zhao, Traci M. Bartz, Maria Pina Concas, Nora Franceschini, Stefan Enroth, Veronique Vitart, Stella Trompet, Xiuqing Guo, Daniel I. Chasman, Jeffrey R. O'Connel, Tanguy Corre, Suraj S. Nongmaithem, Yuning Chen, Massimo Mangino, Daniela Ruggiero, Michela Traglia, Aliki-Eleni Farmaki, Tim Kacprowski, Andrew Bjonnes, Ashley van der Spek, Ying Wu, Anil K. Giri, Lisa R. Yanek, Lihua Wang, Edith Hofer, Cornelius A. Rietveld, Olga McLeod, Marilyn C. Cornelis, Cristian Pattaro, Niek Verweij, Clemens Baumbach, Abdel Abdellaoui, Helen R. Warren, Dragana Vuckovic, Hao Mei, Claude Bouchard, John R. B. Perry, Stefania Cappellani, Saira S. Mirza, Miles C. Benton, Ulrich Broeckel, Sarah E. Medland, Penelope A. Lind, Giovanni Malerba, Alexander Drong, Loic Yengo, Lawrence F. Bielak, Degui Zhi, Peter J. van der Most, Daniel Shriner, Reedik Mägi, Gibran Hemani, Tugce Karaderi, Zhaoming Wang, Tian Liu, Ilja Demuth, Jing Hua Zhao, Weihua Meng, Lazaros Lataniotis, Sander W. van der Laan, Jonathan P. Bradfield, Andrew R. Wood, Amelie Bonnefond, Tarunveer S. Ahluwalia, Leanne M. Hall, Erika Salvi, Seyhan Yazar, Lisbeth Carstensen, Hugoline G. de Haan, Mark Abney, Uzma Afzal, Matthew A. Allison, Najaf Amin, Folkert W. Asselbergs, Stephan J. L. Bakker, R. Graham Barr, Sebastian E. Baumeister, Daniel J. Benjamin, Sven Bergmann, Eric Boerwinkle, Erwin P. Bottinger, Archie Campbell, Aravinda Chakravarti, Yingleong Chan, Stephen J. Chanock, Constance Chen, Y.-D. Ida Chen, Francis S. Collins, John Connell, Adolfo Correa, L. Adrienne Cupples, George Davey Smith, Gail Davies, Marcus Dörr, Georg Ehret, Stephen B. Ellis, Bjarke Feenstra, Mary F. Feitosa, Ian Ford, Caroline S. Fox, Timothy M. Frayling, Nele Friedrich, Frank Geller, Generation Scotland, Irina Gillham-Nasenya, Omri Gottesman, Misa Graff, Francine Grodstein, Charles Gu, Chris Haley, Christopher J. Hammond, Sarah E. Harris, Tamara B. Harris, Nicholas D. Hastie, Nancy L. Heard-Costa, Kauko Heikkilä, Lynne J. Hocking, Georg Homuth, Jouke-Jan Hottenga, Jinyan Huang, Jennifer E. Huffman, Pirro G. Hysi, M. Arfan Ikram, Erik Ingelsson, Anni Joensuu, Åsa Johansson, Pekka Jousilahti, J. Wouter Jukema, Mika Kähönen, Yoichiro Kamatani, Stavroula Kanoni, Shona M. Kerr, Nazir M. Khan, Philipp Koellinger, Heikki A. Koistinen, Manraj K. Kooner, Michiaki Kubo, Johanna Kuusisto, Jari Lahti, Lenore J. Launer, Rodney A. Lea, Benjamin Lehne, Terho Lehtimäki, David C.M. Liewald, Lars Lind, Marie Loh, Marja-Liisa Lokki, Stephanie J. London, Stephanie J. Loomis, Anu Loukola, Yingchang Lu, Thomas Lumley, Annamari Lundqvist, Satu Männistö, Pedro Marques-Vidal, Corrado Masciullo, Angela Matchan, Rasika A. Mathias, Koichi Matsuda, James B. Meigs, Christa Meisinger, Thomas Meitinger, Cristina Menni, Frank D. Mentch, Evelin Mihailov, Lili Milani, May E. Montasser, Grant W. Montgomery, Alanna Morrison, Richard H. Myers, Rajiv Nadukuru, Pau Navarro, Mari Nelis, Markku S. Nieminen, Ilja M. Nolte, George T. O'Connor, Adesola Ogunniyi, Sandosh Padmanabhan, Walter R. Palmas, James S. Pankow, Inga Patarcic, Francesca Pavani, Patricia A. Peyser, Kirsi Pietilainen, Neil Poulter, Inga Prokopenko, Sarju Ralhan, Paul Redmond, Stephen S. Rich, Harri Rissanen, Antonietta Robino, Lynda M. Rose, Richard Rose, Cinzia Sala, Babatunde Salako, Veikko Salomaa, Antti-Pekka Sarin, Richa Saxena, Helena Schmidt, Laura J. Scott, William R. Scott, Bengt Sennblad, Sudha Seshadri, Peter Sever, Smeeta Shrestha, Blair H. Smith, Jennifer A. Smith, Nicole Soranzo, Nona Sotoodehnia, Lorraine Southam, Alice V. Stanton, Maria G. Stathopoulou, Konstantin Strauch, Rona J. Strawbridge, Matthew J. Suderman, Nikhil Tandon, Sian-Tsun Tang, Kent D. Taylor, Bamidele O. Tayo, Anna Maria Töglhofer, Maciej Tomaszewski, Natalia Tšernikova, Jaakko Tuomi
Pubblicato in: Nature, Numero 00280836, 2015, Pagina/e 459-462, ISSN 0028-0836
Editore: Nature Publishing Group
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Mediation Analysis Demonstrates That Trans-eQTLs Are Often Explained by Cis-Mediation: A Genome-Wide Analysis among 1,800 South Asians

Autori: Brandon L. Pierce, Lin Tong, Lin S. Chen, Ronald Rahaman, Maria Argos, Farzana Jasmine, Shantanu Roy, Rachelle Paul-Brutus, Harm-Jan Westra, Lude Franke, Tonu Esko, Rakibuz Zaman, Tariqul Islam, Mahfuzar Rahman, John A. Baron, Muhammad G. Kibriya, Habibul Ahsan
Pubblicato in: PLoS Genetics, Numero 15537404, 2014, Pagina/e e1004818, ISSN 1553-7404
Editore: PLOS
DOI: 10.1371/journal.pgen.1004818

Complementary seminovaginal microbiome in couples

Autori: Reet Mändar, Margus Punab, Natalja Borovkova, Eleri Lapp, Riinu Kiiker, Paul Korrovits, Andres Metspalu, Kaarel Krjutškov, Hiie Nõlvak, Jens-Konrad Preem, Kristjan Oopkaup, Andres Salumets, Jaak Truu
Pubblicato in: Research in Microbiology, Numero 09232508, 2015, Pagina/e 440-447, ISSN 0923-2508
Editore: Elsevier BV
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A Genome-Wide Analysis of Populations from European Russia Reveals a New Pole of Genetic Diversity in Northern Europe

Autori: Andrey V. Khrunin, Denis V. Khokhrin, Irina N. Filippova, Tõnu Esko, Mari Nelis, Natalia A. Bebyakova, Natalia L. Bolotova, Janis Klovins, Liene Nikitina-Zake, Karola Rehnström, Samuli Ripatti, Stefan Schreiber, Andre Franke, Milan Macek, Veronika Krulišová, Jan Lubinski, Andres Metspalu, Svetlana A. Limborska
Pubblicato in: PLoS ONE, Numero 19326203, 2013, Pagina/e e58552, ISSN 1932-6203
Editore: Public Library of Science
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Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Autori: Beben Benyamin, Tonu Esko, Janina S. Ried, Aparna Radhakrishnan, Sita H. Vermeulen, Michela Traglia, Martin Gögele, Denise Anderson, Linda Broer, Clara Podmore, Jian’an Luan, Zoltan Kutalik, Serena Sanna, Peter van der Meer, Toshiko Tanaka, Fudi Wang, Harm-Jan Westra, Lude Franke, Evelin Mihailov, Lili Milani, Jonas Häldin, Juliane Winkelmann, Thomas Meitinger, Joachim Thiery, Annette Peters, Melanie Waldenberger, Augusto Rendon, Jennifer Jolley, Jennifer Sambrook, Lambertus A. Kiemeney, Fred C. Sweep, Cinzia F. Sala, Christine Schwienbacher, Irene Pichler, Jennie Hui, Ayse Demirkan, Aaron Isaacs, Najaf Amin, Maristella Steri, Gérard Waeber, Niek Verweij, Joseph E. Powell, Dale R. Nyholt, Andrew C. Heath, Pamela A. F. Madden, Peter M. Visscher, Margaret J. Wright, Grant W. Montgomery, Nicholas G. Martin, Dena Hernandez, Stefania Bandinelli, Pim van der Harst, Manuela Uda, Peter Vollenweider, Robert A. Scott, Claudia Langenberg, Nicholas J. Wareham, Cornelia van Duijn, John Beilby, Peter P. Pramstaller, Andrew A. Hicks, Willem H. Ouwehand, Konrad Oexle, Christian Gieger, Andres Metspalu, Clara Camaschella, Daniela Toniolo, Dorine W. Swinkels, John B. Whitfield
Pubblicato in: Nature Communications, Numero 20411723, 2014, Pagina/e 4926, ISSN 2041-1723
Editore: Nature Publishing Group
DOI: 10.1038/ncomms5926

Functional Impact and Evolution of a Novel Human Polymorphic Inversion That Disrupts a Gene and Creates a Fusion Transcript

Autori: Marta Puig, David Castellano, Lorena Pantano, Carla Giner-Delgado, David Izquierdo, Magdalena Gayà-Vidal, José Ignacio Lucas-Lledó, Tõnu Esko, Chikashi Terao, Fumihiko Matsuda, Mario Cáceres
Pubblicato in: PLOS Genetics, Numero 15537404, 2015, Pagina/e e1005495, ISSN 1553-7404
Editore: Public Library of Science
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A genome-wide association study of early menopause and the combined impact of identified variants

Autori: J. R. B. Perry, T. Corre, T. Esko, D. I. Chasman, K. Fischer, N. Franceschini, C. He, Z. Kutalik, M. Mangino, L. M. Rose, A. Vernon Smith, L. Stolk, P. Sulem, M. N. Weedon, W. V. Zhuang, A. Arnold, A. Ashworth, S. Bergmann, J. E. Buring, A. Burri, C. Chen, M. C. Cornelis, D. J. Couper, M. O. Goodarzi, V. Gudnason, T. Harris, A. Hofman, M. Jones, P. Kraft, L. Launer, J. S. E. Laven, G. Li, B. McKnight, C. Masciullo, L. Milani, N. Orr, B. M. Psaty, P. M. Ridker, F. Rivadeneira, C. Sala, A. Salumets, M. Schoemaker, M. Traglia, G. Waeber, S. J. Chanock, E. W. Demerath, M. Garcia, S. E. Hankinson, F. B. Hu, D. J. Hunter, K. L. Lunetta, A. Metspalu, G. W. Montgomery, J. M. Murabito, A. B. Newman, K. K. Ong, T. D. Spector, K. Stefansson, A. J. Swerdlow, U. Thorsteinsdottir, R. M. Van Dam, A. G. Uitterlinden, J. A. Visser, P. Vollenweider, D. Toniolo, A. Murray
Pubblicato in: Human Molecular Genetics, Numero 09646906, 2013, Pagina/e 1465-1472, ISSN 0964-6906
Editore: Oxford University Press
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Allowing for non-adherence to treatment in a randomized controlled trial of two antidepressants (citalopram versus reboxetine): an example from the GENPOD trial

Autori: N. J. Wiles, K. Fischer, P. Cowen, D. Nutt, T. J. Peters, G. Lewis, I. R. White
Pubblicato in: Psychological Medicine, Numero 00332917, 2014, Pagina/e 2855-2866, ISSN 0033-2917
Editore: Cambridge University Press
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Assessment of Osteoarthritis Candidate Genes in a Meta-Analysis of Nine Genome-Wide Association Studies

Autori: Cristina Rodriguez-Fontenla, Manuel Calaza, Evangelos Evangelou, Ana M. Valdes, Nigel Arden, Francisco J. Blanco, Andrew Carr, Kay Chapman, Panos Deloukas, Michael Doherty, Tõnu Esko, Carlos M. Garcés Aletá, Juan J. Gomez-Reino Carnota, Hafdis Helgadottir, Albert Hofman, Ingileif Jonsdottir, Hanneke J. M. Kerkhof, Margreet Kloppenburg, Andrew McCaskie, Evangelia E. Ntzani, William E. R. Ollier, Natividad Oreiro, Kalliope Panoutsopoulou, Stuart H. Ralston, Yolande F. Ramos, Jose A. Riancho, Fernando Rivadeneira, P. Eline Slagboom, Unnur Styrkarsdottir, Unnur Thorsteinsdottir, Gudmar Thorleifsson, Aspasia Tsezou, André G. Uitterlinden, Gillian A. Wallis, J. Mark Wilkinson, Guangju Zhai, Yanyan Zhu, David T. Felson, John P. A. Ioannidis, John Loughlin, Andres Metspalu, Ingrid Meulenbelt, Kari Stefansson, Joyce B. van Meurs, Eleftheria Zeggini, Timothy D. Spector, Antonio Gonzalez
Pubblicato in: Arthritis & Rheumatology, Numero 23265191, 2014, Pagina/e 940-949, ISSN 2326-5191
Editore: Wiley
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Mapping the Genetic Architecture of Gene Regulation in Whole Blood

Autori: Katharina Schramm, Carola Marzi, Claudia Schurmann, Maren Carstensen, Eva Reinmaa, Reiner Biffar, Gertrud Eckstein, Christian Gieger, Hans-Jörgen Grabe, Georg Homuth, Gabriele Kastenmüller, Reedik Mägi, Andres Metspalu, Evelin Mihailov, Annette Peters, Astrid Petersmann, Michael Roden, Konstantin Strauch, Karsten Suhre, Alexander Teumer, Uwe Völker, Henry Völzke, Rui Wang-Sattler, Melanie Waldenberger, Thomas Meitinger, Thomas Illig, Christian Herder, Harald Grallert, Holger Prokisch
Pubblicato in: PLoS ONE, Numero 19326203, 2014, Pagina/e e93844, ISSN 1932-6203
Editore: Public Library of Science
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Global implementation of genomic medicine: We are not alone

Autori: T. A. Manolio, M. Abramowicz, F. Al-Mulla, W. Anderson, R. Balling, A. C. Berger, S. Bleyl, A. Chakravarti, W. Chantratita, R. L. Chisholm, V. H. W. Dissanayake, M. Dunn, V. J. Dzau, B.-G. Han, T. Hubbard, A. Kolbe, B. Korf, M. Kubo, P. Lasko, E. Leego, S. Mahasirimongkol, P. P. Majumdar, G. Matthijs, H. L. McLeod, A. Metspalu, P. Meulien, S. Miyano, Y. Naparstek, P. P. O'Rourke, G. P. Patrinos, H. L. Rehm, M. V. Relling, G. Rennert, L. L. Rodriguez, D. M. Roden, A. R. Shuldiner, S. Sinha, P. Tan, M. Ulfendahl, R. Ward, M. S. Williams, J. E. L. Wong, E. D. Green, G. S. Ginsburg
Pubblicato in: Science Translational Medicine, Numero 19466234, 2015, Pagina/e 290ps13-290ps13, ISSN 1946-6234
Editore: American Association for the Advancement of Science
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Common genetic variants associated with cognitive performance identified using the proxy-phenotype method

Autori: C. A. Rietveld, T. Esko, G. Davies, T. H. Pers, P. Turley, B. Benyamin, C. F. Chabris, V. Emilsson, A. D. Johnson, J. J. Lee, C. d. Leeuw, R. E. Marioni, S. E. Medland, M. B. Miller, O. Rostapshova, S. J. van der Lee, A. A. E. Vinkhuyzen, N. Amin, D. Conley, J. Derringer, C. M. van Duijn, R. Fehrmann, L. Franke, E. L. Glaeser, N. K. Hansell, C. Hayward, W. G. Iacono, C. Ibrahim-Verbaas, V. Jaddoe, J. Karjalainen, D. Laibson, P. Lichtenstein, D. C. Liewald, P. K. E. Magnusson, N. G. Martin, M. McGue, G. McMahon, N. L. Pedersen, S. Pinker, D. J. Porteous, D. Posthuma, F. Rivadeneira, B. H. Smith, J. M. Starr, H. Tiemeier, N. J. Timpson, M. Trzaskowski, A. G. Uitterlinden, F. C. Verhulst, M. E. Ward, M. J. Wright, G. Davey Smith, I. J. Deary, M. Johannesson, R. Plomin, P. M. Visscher, D. J. Benjamin, D. Cesarini, P. D. Koellinger
Pubblicato in: Proceedings of the National Academy of Sciences, Numero 00278424, 2014, Pagina/e 13790-13794, ISSN 0027-8424
Editore: National Academy of Sciences
DOI: 10.1073/pnas.1404623111

Genetic and epigenetic regulation of gene expression in fetal and adult human livers

Autori: Marc Bonder, Silva Kasela, Mart Kals, Riin Tamm, Kaie Lokk, Isabel Barragan, Wim A Buurman, Patrick Deelen, Jan-Willem Greve, Maxim Ivanov, Sander S Rensen, Jana V van Vliet-Ostaptchouk, Marcel G Wolfs, Jingyuan Fu, Marten H Hofker, Cisca Wijmenga, Alexandra Zhernakova, Magnus Ingelman-Sundberg, Lude Franke, Lili Milani
Pubblicato in: BMC Genomics, Numero 14712164, 2014, Pagina/e 860, ISSN 1471-2164
Editore: BioMed Central
DOI: 10.1186/1471-2164-15-860

Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu

Autori: Liis Leitsalu, Toomas Haller, Tõnu Esko, Mari-Liis Tammesoo, Helene Alavere, Harold Snieder, Markus Perola, Pauline C Ng, Reedik Mägi, Lili Milani, Krista Fischer, Andres Metspalu
Pubblicato in: International Journal of Epidemiology, Numero 03005771, 2015, Pagina/e 1137-1147, ISSN 0300-5771
Editore: Oxford University Press
DOI: 10.1093/ije/dyt268

Trans-ancestry genome-wide association study identifies 12 genetic loci influencing blood pressure and implicates a role for DNA methylation

Autori: Norihiro Kato, Marie Loh, Fumihiko Takeuchi, Niek Verweij, Xu Wang, Weihua Zhang, Tanika N Kelly, Danish Saleheen, Benjamin Lehne, Irene Mateo Leach, Alexander W Drong, James Abbott, Simone Wahl, Sian-Tsung Tan, William R Scott, Gianluca Campanella, Marc Chadeau-Hyam, Uzma Afzal, Tarunveer S Ahluwalia, Marc Jan Bonder, Peng Chen, Abbas Dehghan, Todd L Edwards, Tõnu Esko, Min Jin Go, Sarah E Harris, Jaana Hartiala, Silva Kasela, Anuradhani Kasturiratne, Chiea-Chuen Khor, Marcus E Kleber, Huaixing Li, Zuan Yu Mok, Masahiro Nakatochi, Nur Sabrina Sapari, Richa Saxena, Alexandre F R Stewart, Lisette Stolk, Yasuharu Tabara, Ai Ling Teh, Ying Wu, Jer-Yuarn Wu, Yi Zhang, Imke Aits, Alexessander Da Silva Couto Alves, Shikta Das, Rajkumar Dorajoo, Jemma C Hopewell, Yun Kyoung Kim, Robert W Koivula, Jian'an Luan, Leo-Pekka Lyytikäinen, Quang N Nguyen, Mark A Pereira, Iris Postmus, Olli T Raitakari, Molly Scannell Bryan, Robert A Scott, Rossella Sorice, Vinicius Tragante, Michela Traglia, Jon White, Ken Yamamoto, Yonghong Zhang, Linda S Adair, Alauddin Ahmed, Koichi Akiyama, Rasheed Asif, Tin Aung, Inês Barroso, Andrew Bjonnes, Timothy R Braun, Hui Cai, Li-Ching Chang, Chien-Hsiun Chen, Ching-Yu Cheng, Yap-Seng Chong, Rory Collins, Regina Courtney, Gail Davies, Graciela Delgado, Loi D Do, Pieter A Doevendans, Ron T Gansevoort, Yu-Tang Gao, Tanja B Grammer, Niels Grarup, Jagvir Grewal, Dongfeng Gu, Gurpreet S Wander, Anna-Liisa Hartikainen, Stanley L Hazen, Jing He, Chew-Kiat Heng, James E Hixson, Albert Hofman, Chris Hsu, Wei Huang, Lise L N Husemoen, Joo-Yeon Hwang, Sahoko Ichihara, Michiya Igase, Masato Isono, Johanne M Justesen, Tomohiro Katsuya, Muhammad G Kibriya, Young Jin Kim, Miyako Kishimoto, Woon-Puay Koh, Katsuhiko Kohara, Meena Kumari, Kenneth Kwek, Nanette R Lee, Jeannette Lee, Jiemin Liao, Wolfgang Lieb, David C M Liewald, Tatsuaki Matsubara, Yumi Matsushita, Thomas Meitinger, Evelin Mihailov, Lili Milani, Rebecca Mills, Nina Mononen, Martina Müller-Nurasyid, Toru Nabika, Eitaro Nakashima, Hong Kiat Ng, Kjell Nikus, Teresa Nutile, Takayoshi Ohkubo, Keizo Ohnaka, Sarah Parish, Lavinia Paternoster, Hao Peng, Annette Peters, Son T Pham, Mohitha J Pinidiyapathirage, Mahfuzar Rahman, Hiromi Rakugi, Olov Rolandsson, Michelle Ann Rozario, Daniela Ruggiero, Cinzia F Sala, Ralhan Sarju, Kazuro Shimokawa, Harold Snieder, Thomas Sparsø, Wilko Spiering, John M Starr, David J Stott, Daniel O Stram, Takao Sugiyama, Silke Szymczak, W H Wilson Tang, Lin Tong, Stella Trompet, Väinö Turjanmaa, Hirotsugu Ueshima, André G Uitterlinden, Satoshi Umemura, Marja Vaarasmaki, Rob M van Dam, Wiek H van Gilst, Dirk J van Veldhuisen, Jorma S Viikari, Melanie Waldenberger, Yiqin Wang, Aili Wang, Rory Wilson, Tien-Yin Wong, Yong-Bing Xiang, Shuhei Yamaguchi, Xingwang Ye, Robin D Young, Terri L Young, Jian-Min Yuan, Xueya Zhou, Folkert W Asselbergs, Marina Ciullo, Robert Clarke, Panos Deloukas, Andre Franke, Paul W Franks, Steve Franks, Yechiel Friedlander, Myron D Gross, Zhirong Guo, Torben Hansen, Marjo-Riitta Jarvelin, Torben Jørgensen, J Wouter Jukema, Mika Kähönen, Hiroshi Kajio, Mika Kivimaki, Jong-Young Lee, Terho Lehtimäki, Allan Linneberg, Tetsuro Miki, Oluf Pedersen, Nilesh J Samani, Thorkild I A Sørensen, Ryoichi Takayanagi, Daniela Toniolo, Habibul Ahsan, Hooman Allayee, Yuan-Tsong Chen, John Danesh, Ian J Deary, Oscar H Franco, Lude Franke, Bastiaan T Heijman, Joanna D Holbrook, Aaron Isaacs, Bong-Jo Kim, Xu Lin, Jianjun Liu, Winfried März, Andres Metspalu, Karen L Mohlke, Dharambir K Sanghera, Xiao-Ou Shu, Joyce B J van Meurs, Eranga Vithana, Ananda R Wickremasinghe, Cisca Wijmenga, Bruce H W Wolffenbuttel, Mitsuhiro Yokota, Wei Zheng, Dingliang Zhu, Paolo Vineis, Soterios A Kyrtopoulos, Jos C S Kleinjans, Mark I McCarthy, Richie Soong, Christian Gieger, James Scott, Yik-Ying Teo, Jiang He, Paul Elliott, E Shyong Tai, Pim van der Harst, Jaspal S Kooner, John C Chambers
Pubblicato in: Nature Genetics, Numero 10614036, 2015, Pagina/e 1282-1293, ISSN 1061-4036
Editore: Nature Publishing Group
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De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

Autori: U. Vaher, M. Noukas, T. Nikopensius, M. Kals, T. Annilo, M. Nelis, K. Ounap, T. Reimand, I. Talvik, P. Ilves, A. Piirsoo, E. Seppet, A. Metspalu, T. Talvik
Pubblicato in: Journal of Child Neurology, Numero 08830738, 2014, Pagina/e NP202-NP206, ISSN 0883-0738
Editore: SAGE Publications
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Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

Autori: Katre Maasalu, Tiit Nikopensius, Sulev Kõks, Margit Nõukas, Mart Kals, Ele Prans, Lidiia Zhytnik, Andres Metspalu, Aare Märtson
Pubblicato in: Human Genomics, Numero 14797364, 2015, ISSN 1479-7364
Editore: BioMed Central
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Meta-analysis of Genome-wide Association Studies for Neuroticism, and the Polygenic Association With Major Depressive Disorder

Autori: Marleen H. M. de Moor, Stéphanie M. van den Berg, Karin J. H. Verweij, Robert F. Krueger, Michelle Luciano, Alejandro Arias Vasquez, Lindsay K. Matteson, Jaime Derringer, Tõnu Esko, Najaf Amin, Scott D. Gordon, Narelle K. Hansell, Amy B. Hart, Ilkka Seppälä, Jennifer E. Huffman, Bettina Konte, Jari Lahti, Minyoung Lee, Mike Miller, Teresa Nutile, Toshiko Tanaka, Alexander Teumer, Alexander Viktorin, Juho Wedenoja, Goncalo R. Abecasis, Daniel E. Adkins, Arpana Agrawal, Jüri Allik, Katja Appel, Timothy B. Bigdeli, Fabio Busonero, Harry Campbell, Paul T. Costa, George Davey Smith, Gail Davies, Harriet de Wit, Jun Ding, Barbara E. Engelhardt, Johan G. Eriksson, Iryna O. Fedko, Luigi Ferrucci, Barbara Franke, Ina Giegling, Richard Grucza, Annette M. Hartmann, Andrew C. Heath, Kati Heinonen, Anjali K. Henders, Georg Homuth, Jouke-Jan Hottenga, William G. Iacono, Joost Janzing, Markus Jokela, Robert Karlsson, John P. Kemp, Matthew G. Kirkpatrick, Antti Latvala, Terho Lehtimäki, David C. Liewald, Pamela A. F. Madden, Chiara Magri, Patrik K. E. Magnusson, Jonathan Marten, Andrea Maschio, Sarah E. Medland, Evelin Mihailov, Yuri Milaneschi, Grant W. Montgomery, Matthias Nauck, Klaasjan G. Ouwens, Aarno Palotie, Erik Pettersson, Ozren Polasek, Yong Qian, Laura Pulkki-Råback, Olli T. Raitakari, Anu Realo, Richard J. Rose, Daniela Ruggiero, Carsten O. Schmidt, Wendy S. Slutske, Rossella Sorice, John M. Starr, Beate St Pourcain, Angelina R. Sutin, Nicholas J. Timpson, Holly Trochet, Sita Vermeulen, Eero Vuoksimaa, Elisabeth Widen, Jasper Wouda, Margaret J. Wright, Lina Zgaga, David Porteous, Alessandra Minelli, Abraham A. Palmer, Dan Rujescu, Marina Ciullo, Caroline Hayward, Igor Rudan, Andres Metspalu, Jaakko Kaprio, Ian J. Deary, Katri Räikkönen, James F. Wilson, Liisa Keltikangas-Järvinen, Laura J. Bierut, John M. Hettema, Hans J. Grabe, Cornelia M. van Duijn, David M. Evans, David Schlessinger, Nancy L. Pedersen, Antonio Terracciano, Matt McGue, Brenda W. J. H. Penninx, Nicholas G. Martin, Dorret I. Boomsma
Pubblicato in: JAMA Psychiatry, Numero 2168622X, 2015, Pagina/e 642, ISSN 2168-622X
Editore: American Medical Association
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Biological insights from 108 schizophrenia-associated genetic loci

Autori: Stephan Ripke, Benjamin M. Neale, Aiden Corvin, James T. R. Walters, Kai-How Farh, Peter A. Holmans, Phil Lee, Brendan Bulik-Sullivan, David A. Collier, Hailiang Huang, Tune H. Pers, Ingrid Agartz, Esben Agerbo, Margot Albus, Madeline Alexander, Farooq Amin, Silviu A. Bacanu, Martin Begemann, Richard A. Belliveau Jr, Judit Bene, Sarah E. Bergen, Elizabeth Bevilacqua, Tim B. Bigdeli, Donald W. Black, Richard Bruggeman, Nancy G. Buccola, Randy L. Buckner, William Byerley, Wiepke Cahn, Guiqing Cai, Dominique Campion, Rita M. Cantor, Vaughan J. Carr, Noa Carrera, Stanley V. Catts, Kimberly D. Chambert, Raymond C. K. Chan, Ronald Y. L. Chen, Eric Y. H. Chen, Wei Cheng, Eric F. C. Cheung, Siow Ann Chong, C. Robert Cloninger, David Cohen, Nadine Cohen, Paul Cormican, Nick Craddock, James J. Crowley, David Curtis, Michael Davidson, Kenneth L. Davis, Franziska Degenhardt, Jurgen Del Favero, Ditte Demontis, Dimitris Dikeos, Timothy Dinan, Srdjan Djurovic, Gary Donohoe, Elodie Drapeau, Jubao Duan, Frank Dudbridge, Naser Durmishi, Peter Eichhammer, Johan Eriksson, Valentina Escott-Price, Laurent Essioux, Ayman H. Fanous, Martilias S. Farrell, Josef Frank, Lude Franke, Robert Freedman, Nelson B. Freimer, Marion Friedl, Joseph I. Friedman, Menachem Fromer, Giulio Genovese, Lyudmila Georgieva, Ina Giegling, Paola Giusti-Rodríguez, Stephanie Godard, Jacqueline I. Goldstein, Vera Golimbet, Srihari Gopal, Jacob Gratten, Lieuwe de Haan, Christian Hammer, Marian L. Hamshere, Mark Hansen, Thomas Hansen, Vahram Haroutunian, Annette M. Hartmann, Frans A. Henskens, Stefan Herms, Joel N. Hirschhorn, Per Hoffmann, Andrea Hofman, Mads V. Hollegaard, David M. Hougaard, Masashi Ikeda, Inge Joa, Antonio Julià, René S. Kahn, Luba Kalaydjieva, Sena Karachanak-Yankova, Juha Karjalainen, David Kavanagh, Matthew C. Keller, James L. Kennedy, Andrey Khrunin, Yunjung Kim, Janis Klovins, James A. Knowles, Bettina Konte, Vaidutis Kucinskas, Zita Ausrele Kucinskiene, Hana Kuzelova-Ptackova, Anna K. Kähler, Claudine Laurent, Jimmy Lee Chee Keong, S. Hong Lee, Sophie E. Legge, Bernard Lerer, Miaoxin Li, Tao Li, Kung-Yee Liang, Jeffrey Lieberman, Svetlana Limborska, Carmel M. Loughland, Jan Lubinski, Jouko Lönnqvist, Milan Macek Jr, Patrik K. E. Magnusson, Brion S. Maher, Wolfgang Maier, Jacques Mallet, Sara Marsal, Manuel Mattheisen, Morten Mattingsdal, Robert W. McCarley, Colm McDonald, Andrew M. McIntosh, Sandra Meier, Carin J. Meijer, Bela Melegh, Ingrid Melle, Raquelle I. Mesholam-Gately, Andres Metspalu, Patricia T. Michie, Lili Milani, Vihra Milanova, Younes Mokrab, Derek W. Morris, Ole Mors, Kieran C. Murphy, Robin M. Murray, Inez Myin-Germeys, Bertram Müller-Myhsok, Mari Nelis, Igor Nenadic, Deborah A. Nertney, Gerald Nestadt, Kristin K. Nicodemus, Liene Nikitina-Zake, Laura Nisenbaum, Annelie Nordin, Eadbhard O’Callaghan, Colm O’Dushlaine, F. Anthony O’Neill, Sang-Yun Oh, Ann Olincy, Line Olsen, Jim Van Os, Psychosis Endophenotypes International Consortium, Christos Pantelis, George N. Papadimitriou, Sergi Papiol, Elena Parkhomenko, Michele T. Pato, Tiina Paunio, Milica Pejovic-Milovancevic, Diana O. Perkins, Olli Pietiläinen, Jonathan Pimm, Andrew J. Pocklington, John Powell, Alkes Price, Ann E. Pulver, Shaun M. Purcell, Digby Quested, Henrik B. Rasmussen, Abraham Reichenberg, Mark A. Reimers, Alexander L. Richards, Joshua L. Roffman, Panos Roussos, Douglas M. Ruderfer, Veikko Salomaa, Alan R. Sanders, Ulrich Schall, Christian R. Schubert, Thomas G. Schulze, Sibylle G. Schwab, Edward M. Scolnick, Rodney J. Scott, Larry J. Seidman, Jianxin Shi, Engilbert Sigurdsson, Teimuraz Silagadze, Jeremy M. Silverman, Kang Sim, Petr Slominsky, Jordan W. Smoller, Hon-Cheong So, ChrisC. A. Spencer, Eli A. Stahl, Hreinn Stefansson, Stacy Steinberg, Elisabeth Stogmann, Richard E. Straub, Eric Strengman, Jana Strohmaier, T. Scott Stroup, Mythily Subramaniam, Jaana Suvisaari, Dragan M. Svrakic, Jin P. Szatkiewicz, Erik Söderman, Srinivas Thirumalai, Draga Toncheva
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Occupational irritants and asthma: an Estonian cross-sectional study of 34 000 adults

Autori: O. Dumas, E. Laurent, J. Bousquet, A. Metspalu, L. Milani, F. Kauffmann, N. Le Moual
Pubblicato in: European Respiratory Journal, Numero 09031936, 2014, Pagina/e 647-656, ISSN 0903-1936
Editore: European Respiratory Society
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Improved treatment and prognosis after acute myocardial infarction in Estonia: cross-sectional study from a high risk country

Autori: Aet Saar, Toomas Marandi, Tiia Ainla, Krista Fischer, Mai Blöndal, Jaan Eha
Pubblicato in: BMC Cardiovascular Disorders, Numero 14712261, 2015, ISSN 1471-2261
Editore: BioMed Central
DOI: 10.1186/s12872-015-0129-7

Haplotype Phasing and Inheritance of Copy Number Variants in Nuclear Families

Autori: Priit Palta, Lauris Kaplinski, Liina Nagirnaja, Andres Veidenberg, Märt Möls, Mari Nelis, Tõnu Esko, Andres Metspalu, Maris Laan, Maido Remm
Pubblicato in: PLOS ONE, Numero 19326203, 2015, Pagina/e e0122713, ISSN 1932-6203
Editore: Public Library of Science
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Within-Trait Heterogeneity in Age Group Differences in Personality Domains and Facets: Implications for the Development and Coherence of Personality Traits

Autori: René Mõttus, Anu Realo, Jüri Allik, Tõnu Esko, Andres Metspalu, Wendy Johnson
Pubblicato in: PLOS ONE, Numero 19326203, 2015, Pagina/e e0119667, ISSN 1932-6203
Editore: Public Library of Science
DOI: 10.1371/journal.pone.0119667

Biomarker Profiling by Nuclear Magnetic Resonance Spectroscopy for the Prediction of All-Cause Mortality: An Observational Study of 17,345 Persons

Autori: Krista Fischer, Johannes Kettunen, Peter Würtz, Toomas Haller, Aki S. Havulinna, Antti J. Kangas, Pasi Soininen, Tõnu Esko, Mari-Liis Tammesoo, Reedik Mägi, Steven Smit, Aarno Palotie, Samuli Ripatti, Veikko Salomaa, Mika Ala-Korpela, Markus Perola, Andres Metspalu
Pubblicato in: PLoS Medicine, Numero 15491676, 2014, Pagina/e e1001606, ISSN 1549-1676
Editore: PLOS
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Corrigendum: Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis

Autori: Beben Benyamin, Tonu Esko, Janina S. Ried, Aparna Radhakrishnan, Sita H. Vermeulen, Michela Traglia, Martin Gögele, Denise Anderson, Linda Broer, Clara Podmore, Jiańan Luan, Zoltan Kutalik, Serena Sanna, Peter van der Meer, Toshiko Tanaka, Fudi Wang, Harm-Jan Westra, Lude Franke, Evelin Mihailov, Lili Milani, Jonas Hälldin, Juliane Winkelmann, Thomas Meitinger, Joachim Thiery, Annette Peters, Melanie Waldenberger, Augusto Rendon, Jennifer Jolley, Jennifer Sambrook, Lambertus A. Kiemeney, Fred C. Sweep, Cinzia F. Sala, Christine Schwienbacher, Irene Pichler, Jennie Hui, Ayse Demirkan, Aaron Isaacs, Najaf Amin, Maristella Steri, Gérard Waeber, Niek Verweij, Joseph E. Powell, Dale R. Nyholt, Andrew C. Heath, Pamela A. F. Madden, Peter M. Visscher, Margaret J. Wright, Grant W. Montgomery, Nicholas G. Martin, Dena Hernandez, Stefania Bandinelli, Pim van der Harst, Manuela Uda, Peter Vollenweider, Robert A. Scott, Claudia Langenberg, Nicholas J. Wareham, Cornelia van Duijn, John Beilby, Peter P. Pramstaller, Andrew A. Hicks, Willem H. Ouwehand, Konrad Oexle, Christian Gieger, Andres Metspalu, Clara Camaschella, Daniela Toniolo, Dorine W. Swinkels, John B Whitfield
Pubblicato in: Nature Communications, Numero 20411723, 2015, Pagina/e 6542, ISSN 2041-1723
Editore: Nature Publishing Group
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Sex- and age-interacting eQTLs in human complex diseases

Autori: C. Yao, R. Joehanes, A. D. Johnson, T. Huan, T. Esko, S. Ying, J. E. Freedman, J. Murabito, K. L. Lunetta, A. Metspalu, P. J. Munson, D. Levy
Pubblicato in: Human Molecular Genetics, Numero 09646906, 2014, Pagina/e 1947-1956, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddt582

Genetics of rheumatoid arthritis contributes to biology and drug discovery

Autori: Yukinori Okada, Di Wu, Gosia Trynka, Towfique Raj, Chikashi Terao, Katsunori Ikari, Yuta Kochi, Koichiro Ohmura, Akari Suzuki, Shinji Yoshida, Robert R. Graham, Arun Manoharan, Ward Ortmann, Tushar Bhangale, Joshua C. Denny, Robert J. Carroll, Anne E. Eyler, Jeffrey D. Greenberg, Joel M. Kremer, Dimitrios A. Pappas, Lei Jiang, Jian Yin, Lingying Ye, Ding-Feng Su, Jian Yang, Gang Xie, Ed Keystone, Harm-Jan Westra, Tõnu Esko, Andres Metspalu, Xuezhong Zhou, Namrata Gupta, Daniel Mirel, Eli A. Stahl, Dorothée Diogo, Jing Cui, Katherine Liao, Michael H. Guo, Keiko Myouzen, Takahisa Kawaguchi, Marieke J. H. Coenen, Piet L. C. M. van Riel, Mart A. F. J. van de Laar, Henk-Jan Guchelaar, Tom W. J. Huizinga, Philippe Dieudé, Xavier Mariette, S. Louis Bridges Jr, Alexandra Zhernakova, Rene E. M. Toes, Paul P. Tak, Corinne Miceli-Richard, So-Young Bang, Hye-Soon Lee, Javier Martin, Miguel A. Gonzalez-Gay, Luis Rodriguez-Rodriguez, Solbritt Rantapää-Dahlqvist, Lisbeth Ärlestig, Hyon K. Choi, Yoichiro Kamatani, Pilar Galan, Mark Lathrop, Steve Eyre, John Bowes, Anne Barton, Niek de Vries, Larry W. Moreland, Lindsey A. Criswell, Elizabeth W. Karlson, Atsuo Taniguchi, Ryo Yamada, Michiaki Kubo, Jun S. Liu, Sang-Cheol Bae, Jane Worthington, Leonid Padyukov, Lars Klareskog, Peter K. Gregersen, Soumya Raychaudhuri, Barbara E. Stranger, Philip L. De Jager, Lude Franke, Peter M. Visscher, Matthew A. Brown, Hisashi Yamanaka, Tsuneyo Mimori, Atsushi Takahashi, Huji Xu, Timothy W. Behrens, Katherine A. Siminovitch, Shigeki Momohara, Fumihiko Matsuda, Kazuhiko Yamamoto, Robert M. Plenge
Pubblicato in: Nature, Numero 00280836, 2013, Pagina/e 376-381, ISSN 0028-0836
Editore: Nature Publishing Group
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Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance

Autori: Y. F. M. Ramos, S. Metrustry, N. Arden, A. C. Bay-Jensen, M. Beekman, A. J. M. de Craen, L. A. Cupples, T. Esko, E. Evangelou, D. T. Felson, D. J. Hart, J. P. A. Ioannidis, M. Karsdal, M. Kloppenburg, F. Lafeber, A. Metspalu, K. Panoutsopoulou, P. E. Slagboom, T. D. Spector, E. W. E. van Spil, A. G. Uitterlinden, Y. Zhu, A. M. Valdes, J. B. J. van Meurs, I. Meulenbelt, P. Arp, M. Jhamai, M. Moorhouse, M. Verkerk, S. Bervoets, T. A Knoch, L. V. de Zeeuw, A. Abuseiris, R. de Graaf, A. Chaney, R. Ravindrarajah, D. Simpkin, C. Hinds, T. Dibling, P. Martin, S. Potter, A. Palotie, N. Soranzo
Pubblicato in: Journal of Medical Genetics, Numero 00222593, 2014, Pagina/e 596-604, ISSN 0022-2593
Editore: British Medical Association
DOI: 10.1136/jmedgenet-2014-102478

Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index

Autori: Jian Yang, Andrew Bakshi, Zhihong Zhu, Gibran Hemani, Anna A E Vinkhuyzen, Sang Hong Lee, Matthew R Robinson, John R B Perry, Ilja M Nolte, Jana V van Vliet-Ostaptchouk, Harold Snieder, Tonu Esko, Lili Milani, Reedik Mägi, Andres Metspalu, Anders Hamsten, Patrik K E Magnusson, Nancy L Pedersen, Erik Ingelsson, Nicole Soranzo, Matthew C Keller, Naomi R Wray, Michael E Goddard, Peter M Visscher
Pubblicato in: Nature Genetics, Numero 10614036, 2015, Pagina/e 1114-1120, ISSN 1061-4036
Editore: Nature Publishing Group
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Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci

Autori: Lam C. Tsoi, Sarah L. Spain, Eva Ellinghaus, Philip E. Stuart, Francesca Capon, Jo Knight, Trilokraj Tejasvi, Hyun M. Kang, Michael H. Allen, Sylviane Lambert, Stefan W. Stoll, Stephan Weidinger, Johann E. Gudjonsson, Sulev Koks, Külli Kingo, Tonu Esko, Sayantan Das, Andres Metspalu, Michael Weichenthal, Charlotta Enerback, Gerald G. Krueger, John J. Voorhees, Vinod Chandran, Cheryl F. Rosen, Proton Rahman, Dafna D. Gladman, Andre Reis, Rajan P. Nair, Andre Franke, Jonathan N.W.N. Barker, Goncalo R. Abecasis, Richard C. Trembath, James T. Elder
Pubblicato in: Nature Communications, Numero 20411723, 2015, Pagina/e 7001, ISSN 2041-1723
Editore: Nature Publishing Group
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Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome

Autori: Olga Žilina, Marina Koltšina, Raivo Raid, Ants Kurg, Neeme Tõnisson, Andres Salumets
Pubblicato in: BMC Genomics, Numero 14712164, 2015, ISSN 1471-2164
Editore: BioMed Central
DOI: 10.1186/s12864-015-1916-3

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

Autori: Christina L Usher, Robert E Handsaker, Tõnu Esko, Marcus A Tuke, Michael N Weedon, Alex R Hastie, Han Cao, Jennifer E Moon, Seva Kashin, Christian Fuchsberger, Andres Metspalu, Carlos N Pato, Michele T Pato, Mark I McCarthy, Michael Boehnke, David M Altshuler, Timothy M Frayling, Joel N Hirschhorn, Steven A McCarroll
Pubblicato in: Nature Genetics, Numero 10614036, 2015, Pagina/e 921-925, ISSN 1061-4036
Editore: Nature Publishing Group
DOI: 10.1038/ng.3340

Dominance Genetic Variation Contributes Little to the Missing Heritability for Human Complex Traits

Autori: Zhihong Zhu, Andrew Bakshi, Anna A.E. Vinkhuyzen, Gibran Hemani, Sang Hong Lee, Ilja M. Nolte, Jana V. van Vliet-Ostaptchouk, Harold Snieder, Tonu Esko, Lili Milani, Reedik Mägi, Andres Metspalu, William G. Hill, Bruce S. Weir, Michael E. Goddard, Peter M. Visscher, Jian Yang
Pubblicato in: The American Journal of Human Genetics, Numero 00029297, 2015, Pagina/e 377-385, ISSN 0002-9297
Editore: University of Chicago Press
DOI: 10.1016/j.ajhg.2015.01.001

Autori: Liina Tserel, Raivo Kolde, Maia Limbach, Konstantin Tretyakov, Silva Kasela, Kai Kisand, Mario Saare, Jaak Vilo, Andres Metspalu, Lili Milani, Pärt Peterson
Pubblicato in: Scientific Reports, Numero 20452322, 2015, Pagina/e 13107, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/srep13107

New genetic loci link adipose and insulin biology to body fat distribution

Autori: Dmitry Shungin, Thomas W. Winkler, Damien C. Croteau-Chonka, Teresa Ferreira, Adam E. Locke, Reedik Mägi, Rona J. Strawbridge, Tune H. Pers, Krista Fischer, Anne E. Justice, Tsegaselassie Workalemahu, Joseph M. W. Wu, Martin L. Buchkovich, Nancy L. Heard-Costa, Tamara S. Roman, Alexander W. Drong, Ci Song, Stefan Gustafsson, Felix R. Day, Tonu Esko, Tove Fall, Zoltán Kutalik, Jian’an Luan, Joshua C. Randall, André Scherag, Sailaja Vedantam, Andrew R. Wood, Jin Chen, Rudolf Fehrmann, Juha Karjalainen, Bratati Kahali, Ching-Ti Liu, Ellen M. Schmidt, Devin Absher, Najaf Amin, Denise Anderson, Marian Beekman, Jennifer L. Bragg-Gresham, Steven Buyske, Ayse Demirkan, Georg B. Ehret, Mary F. Feitosa, Anuj Goel, Anne U. Jackson, Toby Johnson, Marcus E. Kleber, Kati Kristiansson, Massimo Mangino, Irene Mateo Leach, Carolina Medina-Gomez, Cameron D. Palmer, Dorota Pasko, Sonali Pechlivanis, Marjolein J. Peters, Inga Prokopenko, Alena Stančáková, Yun Ju Sung, Toshiko Tanaka, Alexander Teumer, Jana V. Van Vliet-Ostaptchouk, Loïc Yengo, Weihua Zhang, Eva Albrecht, Johan Ärnlöv, Gillian M. Arscott, Stefania Bandinelli, Amy Barrett, Claire Bellis, Amanda J. Bennett, Christian Berne, Matthias Blüher, Stefan Böhringer, Fabrice Bonnet, Yvonne Böttcher, Marcel Bruinenberg, Delia B. Carba, Ida H. Caspersen, Robert Clarke, E. Warwick Daw, Joris Deelen, Ewa Deelman, Graciela Delgado, Alex S. F. Doney, Niina Eklund, Michael R. Erdos, Karol Estrada, Elodie Eury, Nele Friedrich, Melissa E. Garcia, Vilmantas Giedraitis, Bruna Gigante, Alan S. Go, Alain Golay, Harald Grallert, Tanja B. Grammer, Jürgen Gräßler, Jagvir Grewal, Christopher J. Groves, Toomas Haller, Goran Hallmans, Catharina A. Hartman, Maija Hassinen, Caroline Hayward, Kauko Heikkilä, Karl-Heinz Herzig, Quinta Helmer, Hans L. Hillege, Oddgeir Holmen, Steven C. Hunt, Aaron Isaacs, Till Ittermann, Alan L. James, Ingegerd Johansson, Thorhildur Juliusdottir, Ioanna-Panagiota Kalafati, Leena Kinnunen, Wolfgang Koenig, Ishminder K. Kooner, Wolfgang Kratzer, Claudia Lamina, Karin Leander, Nanette R. Lee, Peter Lichtner, Lars Lind, Jaana Lindström, Stéphane Lobbens, Mattias Lorentzon, François Mach, Patrik K. E. Magnusson, Anubha Mahajan, Wendy L. McArdle, Cristina Menni, Sigrun Merger, Evelin Mihailov, Lili Milani, Rebecca Mills, Alireza Moayyeri, Keri L. Monda, Simon P. Mooijaart, Thomas W. Mühleisen, Antonella Mulas, Gabriele Müller, Martina Müller-Nurasyid, Ramaiah Nagaraja, Michael A. Nalls, Narisu Narisu, Nicola Glorioso, Ilja M. Nolte, Matthias Olden, Nigel W. Rayner, Frida Renstrom, Janina S. Ried, Neil R. Robertson, Lynda M. Rose, Serena Sanna, Hubert Scharnagl, Salome Scholtens, Bengt Sennblad, Thomas Seufferlein, Colleen M. Sitlani, Albert Vernon Smith, Kathleen Stirrups, Heather M. Stringham, Johan Sundström, Morris A. Swertz, Amy J. Swift, Ann-Christine Syvänen, Bamidele O. Tayo, Barbara Thorand, Gudmar Thorleifsson, Andreas Tomaschitz, Chiara Troffa, Floor V. A. van Oort, Niek Verweij, Judith M. Vonk, Lindsay L. Waite, Roman Wennauer, Tom Wilsgaard, Mary K. Wojczynski, Andrew Wong, Qunyuan Zhang, Jing Hua Zhao, Eoin P. Brennan, Murim Choi, Per Eriksson, Lasse Folkersen, Anders Franco-Cereceda, Ali G. Gharavi, Åsa K. Hedman, Marie-France Hivert, Jinyan Huang, Stavroula Kanoni, Fredrik Karpe, Sarah Keildson, Krzysztof Kiryluk, Liming Liang, Richard P. Lifton, Baoshan Ma, Amy J. McKnight, Ruth McPherson, Andres Metspalu, Josine L. Min, Miriam F. Moffatt, Grant W. Montgomery, Joanne M. Murabito, George Nicholson, Dale R. Nyholt, Christian Olsson, John R. B. Perry, Eva Reinmaa, Rany M. Salem, Niina Sandholm, Eric E. Schadt, Robert A. Scott, Lisette Stolk, Edgar E. Vallejo, Harm-Jan Westra, Krina T. Zondervan, Philippe Amouyel, Dominique Arveiler, Stephan J. L. Bakker, John Beilby, Richard N. Bergman, John Blangero, Morris J. Brown, Michel Burnier, Harry Campbell, Aravinda Chakravarti, Peter S. Chines, Simone Claudi-Boehm, Francis S. Collins, Dana C. Crawford, Jo
Pubblicato in: Nature, Numero 00280836, 2015, Pagina/e 187-196, ISSN 0028-0836
Editore: Nature Publishing Group
DOI: 10.1038/nature14132

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

Autori: Louise V Wain, Nick Shrine, Suzanne Miller, Victoria E Jackson, Ioanna Ntalla, María Soler Artigas, Charlotte K Billington, Abdul Kader Kheirallah, Richard Allen, James P Cook, Kelly Probert, Ma'en Obeidat, Yohan Bossé, Ke Hao, Dirkje S Postma, Peter D Paré, Adaikalavan Ramasamy, Reedik Mägi, Evelin Mihailov, Eva Reinmaa, Erik Melén, Jared O'Connell, Eleni Frangou, Olivier Delaneau, Colin Freeman, Desislava Petkova, Mark McCarthy, Ian Sayers, Panos Deloukas, Richard Hubbard, Ian Pavord, Anna L Hansell, Neil C Thomson, Eleftheria Zeggini, Andrew P Morris, Jonathan Marchini, David P Strachan, Martin D Tobin, Ian P Hall
Pubblicato in: The Lancet Respiratory Medicine, Numero 22132600, 2015, Pagina/e 769-781, ISSN 2213-2600
Editore: Elsevier Limited
DOI: 10.1016/S2213-2600(15)00283-0

Cell Specific eQTL Analysis without Sorting Cells

Autori: Harm-Jan Westra, Danny Arends, Tõnu Esko, Marjolein J. Peters, Claudia Schurmann, Katharina Schramm, Johannes Kettunen, Hanieh Yaghootkar, Benjamin P. Fairfax, Anand Kumar Andiappan, Yang Li, Jingyuan Fu, Juha Karjalainen, Mathieu Platteel, Marijn Visschedijk, Rinse K. Weersma, Silva Kasela, Lili Milani, Liina Tserel, Pärt Peterson, Eva Reinmaa, Albert Hofman, André G. Uitterlinden, Fernando Rivadeneira, Georg Homuth, Astrid Petersmann, Roberto Lorbeer, Holger Prokisch, Thomas Meitinger, Christian Herder, Michael Roden, Harald Grallert, Samuli Ripatti, Markus Perola, Andrew R. Wood, David Melzer, Luigi Ferrucci, Andrew B. Singleton, Dena G. Hernandez, Julian C. Knight, Rossella Melchiotti, Bernett Lee, Michael Poidinger, Francesca Zolezzi, Anis Larbi, De Yun Wang, Leonard H. van den Berg, Jan H. Veldink, Olaf Rotzschke, Seiko Makino, Veikko Salomaa, Konstantin Strauch, Uwe Völker, Joyce B. J. van Meurs, Andres Metspalu, Cisca Wijmenga, Ritsert C. Jansen, Lude Franke
Pubblicato in: PLOS Genetics, Numero 15537404, 2015, Pagina/e e1005223, ISSN 1553-7404
Editore: Public Library of Science
DOI: 10.1371/journal.pgen.1005223

Effects of Metformin on Metabolite Profiles and LDL Cholesterol in Patients With Type 2 Diabetes

Autori: Tao Xu, Stefan Brandmaier, Ana C. Messias, Christian Herder, Harmen H.M. Draisma, Ayse Demirkan, Zhonghao Yu, Janina S. Ried, Toomas Haller, Margit Heier, Monica Campillos, Gisela Fobo, Renee Stark, Christina Holzapfel, Jonathan Adam, Shen Chi, Markus Rotter, Tommaso Panni, Anne S. Quante, Ying He, Cornelia Prehn, Werner Roemisch-Margl, Gabi Kastenmüller, Gonneke Willemsen, René Pool, Katarina Kasa, Ko Willems van Dijk, Thomas Hankemeier, Christa Meisinger, Barbara Thorand, Andreas Ruepp, Martin Hrabé de Angelis, Yixue Li, H.-Erich Wichmann, Bernd Stratmann, Konstantin Strauch, Andres Metspalu, Christian Gieger, Karsten Suhre, Jerzy Adamski, Thomas Illig, Wolfgang Rathmann, Michael Roden, Annette Peters, Cornelia M. van Duijn, Dorret I. Boomsma, Thomas Meitinger, Rui Wang-Sattler
Pubblicato in: Diabetes Care, Numero 01495992, 2015, Pagina/e 1858-1867, ISSN 0149-5992
Editore: American Diabetes Association
DOI: 10.2337/dc15-0658

Is the adiposity-associated FTO gene variant related to all-cause mortality independent of adiposity? Meta-analysis of data from 169,551 Caucasian adults

Autori: E. Zimmermann, L. H. Ängquist, S. S. Mirza, J. H. Zhao, D. I. Chasman, K. Fischer, Q. Qi, A. V. Smith, M. Thinggaard, M. N. Jarczok, M. A. Nalls, S. Trompet, N. J. Timpson, B. Schmidt, A. U. Jackson, L. P. Lyytikäinen, N. Verweij, M. Mueller-Nurasyid, M. Vikström, P. Marques-Vidal, A. Wong, K. Meidtner, R. P. Middelberg, R. J. Strawbridge, L. Christiansen, K. O. Kyvik, A. Hamsten, T. Jääskeläinen, A. Tjønneland, J. G. Eriksson, J. B. Whitfield, H. Boeing, R. Hardy, P. Vollenweider, K. Leander, A. Peters, P. van der Harst, M. Kumari, T. Lehtimäki, A. Meirhaeghe, J. Tuomilehto, K.-H. Jöckel, Y. Ben-Shlomo, N. Sattar, S. E. Baumeister, G. Davey Smith, J. P. Casas, D. K. Houston, W. März, K. Christensen, V. Gudnason, F. B. Hu, A. Metspalu, P. M. Ridker, N. J. Wareham, R. J. F. Loos, H. Tiemeier, E. Sonestedt, T. I. A. Sørensen
Pubblicato in: Obesity Reviews, Numero 14677881, 2015, Pagina/e 327-340, ISSN 1467-7881
Editore: Blackwell Publishing Inc.
DOI: 10.1111/obr.12263

ePerMed - Rise of scientific excellence and collaboration for implementing personalised medicine in Estonia - H2020

Autori: Andres Metspalu
Pubblicato in: Impact, Numero 2018/7, 2018, Pagina/e 53-55, ISSN 2398-7073
Editore: Science Impact Ltd
DOI: 10.21820/23987073.2018.7.53

Comprehensive Meta-analysis of MicroRNA Expression Using a Robust Rank Aggregation Approach

Autori: Urmo Võsa, Raivo Kolde, Jaak Vilo, Andres Metspalu, Tarmo Annilo
Pubblicato in: RNA Mapping, 2014, Pagina/e 361-373, ISBN 978-1-4939-1062-5
Editore: Springer New York
DOI: 10.1007/978-1-4939-1062-5_28

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