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Multiple manifestations of genetic and non-genetic factors in Multiple Sclerosis disentangled with a multi-omics approach to accelerate personalised medicine

Deliverables

Data availability and knowledge discovery tool to monitor for the availability of the different data types

Data availability and knowledge discovery tool to monitor for the availability of the different data types

Searching for OpenAIRE data...

Publications

DNA methylation as a mediator of HLA-DRB1*15:01 and a protective variant in multiple sclerosis

Author(s): Lara Kular, Yun Liu, Sabrina Ruhrmann, Galina Zheleznyakova, Francesco Marabita, David Gomez-Cabrero, Tojo James, Ewoud Ewing, Magdalena Lindén, Bartosz Górnikiewicz, Shahin Aeinehband, Pernilla Stridh, Jenny Link, Till F. M. Andlauer, Christiane Gasperi, Heinz Wiendl, Frauke Zipp, Ralf Gold, Björn Tackenberg, Frank Weber, Bernhard Hemmer, Konstantin Strauch, Stefanie Heilmann-Heimbach, Rajesh
Published in: Nature Communications, Issue 9/1, 2018, ISSN 2041-1723
DOI: 10.1038/s41467-018-04732-5

Epigenetic and Transcriptional Variability Shape Phenotypic Plasticity


Published in: ISSN 0265-9247
DOI: 10.1002/bies.201700148

Impact of genetic risk loci for multiple sclerosis on expression of proximal genes in patients

Author(s): Tojo James, Magdalena Lindén, Hiromasa Morikawa, Sunjay Jude Fernandes, Sabrina Ruhrmann, Mikael Huss, Maya Brandi, Fredrik Piehl, Maja Jagodic, Jesper Tegnér, Mohsen Khademi, Tomas Olsson, David Gomez-Cabrero, Ingrid Kockum
Published in: Human Molecular Genetics, Issue 27/5, 2018, Page(s) 912-928, ISSN 0964-6906
DOI: 10.1093/hmg/ddy001

Epigenetic variation taking center stage in immunological research

Author(s): Simone Ecker, Stephan Beck
Published in: Epigenomics, Issue 9/4, 2017, Page(s) 375-378, ISSN 1750-1911
DOI: 10.2217/epi-2017-0006

Plasma neurofilament light chain levels in patients with MS switching from injectable therapies to fingolimod

Author(s): Fredrik Piehl, Ingrid Kockum, Mohsen Khademi, Kaj Blennow, Jan Lycke, Henrik Zetterberg, Tomas Olsson
Published in: Multiple Sclerosis Journal, Issue 24/8, 2018, Page(s) 1046-1054, ISSN 1352-4585
DOI: 10.1177/1352458517715132

Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations

Author(s): Sigurgeir Olafsson, Pernilla Stridh, Steffan Daniël Bos, Andres Ingason, Jack Euesden, Patrick Sulem, Gudmar Thorleifsson, Omar Gustafsson, Ari Johannesson, Arni J. Geirsson, Arni V. Thorsson, Bardur Sigurgeirsson, Bjorn Runar Ludviksson, Elias Olafsson, Helga Kristjansdottir, Jon G. Jonasson, Jon Hjaltalin Olafsson, Kjartan B. Orvar, Rafn Benediktsson, Ragnar Bjarnason, Sjofn Kristjansdottir, Th
Published in: npj Genomic Medicine, Issue 2/1, 2017, ISSN 2056-7944
DOI: 10.1038/s41525-017-0027-2

Serum heat shock protein 70 levels as a biomarker for inflammatory processes in multiple sclerosis

Author(s): Patricia Lechner, Dorothea Buck, Lisa Sick, Bernhard Hemmer, Gabriele Multhoff
Published in: Multiple Sclerosis Journal - Experimental, Translational and Clinical, Issue 4/2, 2018, Page(s) 205521731876719, ISSN 2055-2173
DOI: 10.1177/2055217318767192

The origins of diversity in human immunity

Author(s): Adrian Liston, An Goris
Published in: Nature Immunology, Issue 19/3, 2018, Page(s) 209-210, ISSN 1529-2908
DOI: 10.1038/s41590-018-0047-9

Multiple sclerosis risk variants alter expression of co-stimulatory genes in B cells

Author(s): Ide Smets, Barnaby Fiddes, Josselyn E Garcia-Perez, Di He, Klara Mallants, Wenjia Liao, James Dooley, George Wang, Stephanie Humblet-Baron, Bénédicte Dubois, Alastair Compston, Joanne Jones, Alasdair Coles, Adrian Liston, Maria Ban, An Goris, Stephen Sawcer
Published in: Brain, Issue 141/3, 2018, Page(s) 786-796, ISSN 0006-8950
DOI: 10.1093/brain/awx372

Increased DNA methylation variability in rheumatoid arthritis-discordant monozygotic twins

Author(s): Amy P. Webster, Darren Plant, Simone Ecker, Flore Zufferey, Jordana T. Bell, Andrew Feber, Dirk S. Paul, Stephan Beck, Anne Barton, Frances M. K. Williams, Jane Worthington
Published in: Genome Medicine, Issue 10/1, 2018, ISSN 1756-994X
DOI: 10.1186/s13073-018-0575-9

Smoking induces DNA methylation changes in Multiple Sclerosis patients with exposure-response relationship

Author(s): Francesco Marabita, Malin Almgren, Louise K. Sjöholm, Lara Kular, Yun Liu, Tojo James, Nimrod B. Kiss, Andrew P. Feinberg, Tomas Olsson, Ingrid Kockum, Lars Alfredsson, Tomas J. Ekström, Maja Jagodic
Published in: Scientific Reports, Issue 7/1, 2017, ISSN 2045-2322
DOI: 10.1038/s41598-017-14788-w

Hypermethylation of MIR21 in CD4+ T cells from patients with relapsing-remitting multiple sclerosis associates with lower miRNA-21 levels and concomitant up-regulation of its target genes

Author(s): Sabrina Ruhrmann, Ewoud Ewing, Eliane Piket, Lara Kular, Julio Cesar Cetrulo Lorenzi, Sunjay Jude Fernandes, Hiromasa Morikawa, Shahin Aeinehband, Sergi Sayols-Baixeras, Stella Aslibekyan, Devin M Absher, Donna K Arnett, Jesper Tegner, David Gomez-Cabrero, Fredrik Piehl, Maja Jagodic
Published in: Multiple Sclerosis Journal, Issue 24/10, 2018, Page(s) 1288-1300, ISSN 1352-4585
DOI: 10.1177/1352458517721356

Ensembl 2018

Author(s): Daniel R Zerbino, Premanand Achuthan, Wasiu Akanni, M Ridwan Amode, Daniel Barrell, Jyothish Bhai, Konstantinos Billis, Carla Cummins, Astrid Gall, Carlos García Girón, Laurent Gil, Leo Gordon, Leanne Haggerty, Erin Haskell, Thibaut Hourlier, Osagie G Izuogu, Sophie H Janacek, Thomas Juettemann, Jimmy Kiang To, Matthew R Laird, Ilias Lavidas, Zhicheng Liu, Jane E Loveland, Thomas Maurel, Willia
Published in: Nucleic Acids Research, Issue 46/D1, 2017, Page(s) D754-D761, ISSN 0305-1048
DOI: 10.1093/nar/gkx1098

Association of Intrathecal Immunoglobulin G Synthesis With Disability Worsening in Multiple Sclerosis

Author(s): Christiane Gasperi, Anke Salmen, Gisela Antony, Antonios Bayas, Christoph Heesen, Tania Kümpfel, Ralf A. Linker, Friedemann Paul, Martin Stangel, Björn Tackenberg, Florian Then Bergh, Clemens Warnke, Frank Weber, Heinz Wiendl, Brigitte Wildemann, Uwe K. Zettl, Ulf Ziemann, Frauke Zipp, Hayrettin Tumani, Ralf Gold, Bernhard Hemmer
Published in: JAMA Neurology, Issue 76/7, 2019, Page(s) 841, ISSN 2168-6149
DOI: 10.1001/jamaneurol.2019.0905

Towards a European health research and innovation cloud (HRIC)

Author(s): F. M. Aarestrup, A. Albeyatti, W. J. Armitage, C. Auffray, L. Augello, R. Balling, N. Benhabiles, G. Bertolini, J. G. Bjaalie, M. Black, N. Blomberg, P. Bogaert, M. Bubak, B. Claerhout, L. Clarke, B. De Meulder, G. D’Errico, A. Di Meglio, N. Forgo, C. Gans-Combe, A. E. Gray, I. Gut, A. Gyllenberg, G. Hemmrich-Stanisak, L. Hjorth, Y. Ioannidis, S. Jarmalaite, A. Kel, F. Kherif, J. O. Korbel, C. L
Published in: Genome Medicine, Issue 12/1, 2020, ISSN 1756-994X
DOI: 10.1186/s13073-020-0713-z

CHIT1 at Diagnosis Reflects Long‐Term Multiple Sclerosis Disease Activity


Published in: ISSN 0364-5134
DOI: 10.1002/ana.25691

A Systematic Assessment of Prevalence, Incidence and Regional Distribution of Multiple Sclerosis in Bavaria From 2006 to 2015

Author(s): Tanja Daltrozzo, Alexander Hapfelmeier, Ewan Donnachie, Antonius Schneider, Bernhard Hemmer
Published in: Frontiers in Neurology, Issue 9, 2018, ISSN 1664-2295
DOI: 10.3389/fneur.2018.00871

CSF parameters associated with early MRI activity in patients with MS

Author(s): Ana Klein, Rebecca C. Selter, Alexander Hapfelmeier, Achim Berthele, Bertram Müller-Myhsok, Viola Pongratz, Christiane Gasperi, Claus Zimmer, Mark Mühlau, Bernhard Hemmer
Published in: Neurology - Neuroimmunology Neuroinflammation, Issue 6/4, 2019, Page(s) e573, ISSN 2332-7812
DOI: 10.1212/nxi.0000000000000573

Increased Serological Response Against Human Herpesvirus 6A Is Associated With Risk for Multiple Sclerosis

Author(s): Elin Engdahl, Rasmus Gustafsson, Jesse Huang, Martin Biström, Izaura Lima Bomfim, Pernilla Stridh, Mohsen Khademi, Nicole Brenner, Julia Butt, Angelika Michel, Daniel Jons, Maria Hortlund, Lucia Alonso-Magdalena, Anna Karin Hedström, Louis Flamand, Masaru Ihira, Tetsushi Yoshikawa, Oluf Andersen, Jan Hillert, Lars Alfredsson, Tim Waterboer, Peter Sundström, Tomas Olsson, Ingrid Kockum, Anna Fog
Published in: Frontiers in Immunology, Issue 10, 2019, ISSN 1664-3224
DOI: 10.3389/fimmu.2019.02715

LncRNAs expression profile in peripheral blood mononuclear cells from multiple sclerosis patients

Author(s): Chiara Fenoglio, Emanuela Oldoni, Maria Serpente, Milena A. De Riz, Marina Arcaro, Marianna D'Anca, Anna M. Pietroboni, Alberto Calvi, Elisabetta Lecchi, An Goris, Klara Mallants, Bénédicte Dubois, Cristoforo Comi, Roberto Cantello, Elio Scarpini, Daniela Galimberti
Published in: Journal of Neuroimmunology, Issue 324, 2018, Page(s) 129-135, ISSN 0165-5728
DOI: 10.1016/j.jneuroim.2018.08.008

The influence of human leukocyte antigen-DRB1*15:01 and its interaction with smoking in MS development is dependent on DQA1*01:01 status

Author(s): Anna Karin Hedström, Ola Hössjer, Jan Hillert, Pernilla Stridh, Ingrid Kockum, Tomas Olsson, Lars Alfredsson
Published in: Multiple Sclerosis Journal, 2019, Page(s) 135245851987768, ISSN 1352-4585
DOI: 10.1177/1352458519877685

Low sun exposure increases multiple sclerosis risk both directly and indirectly

Author(s): Anna Karin Hedström, Tomas Olsson, Ingrid Kockum, Jan Hillert, Lars Alfredsson
Published in: Journal of Neurology, 2019, ISSN 0340-5354
DOI: 10.1007/s00415-019-09677-3

A large case-control study on vaccination as risk factor for multiple sclerosis


Published in: ISSN 0028-3878
DOI: 10.1212/wnl.0000000000008012

Genetic Architecture of Adaptive Immune System Identifies Key Immune Regulators

Author(s): Vasiliki Lagou, Josselyn E. Garcia-Perez, Ide Smets, Lies Van Horebeek, Marijne Vandebergh, Liye Chen, Klara Mallants, Teresa Prezzemolo, Kelly Hilven, Stephanie Humblet-Baron, Matthieu Moisse, Philip Van Damme, Guy Boeckxstaens, Paul Bowness, Bénédicte Dubois, James Dooley, Adrian Liston, An Goris
Published in: Cell Reports, Issue 25/3, 2018, Page(s) 798-810.e6, ISSN 2211-1247
DOI: 10.1016/j.celrep.2018.09.048

A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer’s disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

Author(s): Sven J. van der Lee, Olivia J. Conway, Iris Jansen, Minerva M. Carrasquillo, Luca Kleineidam, Erik van den Akker, Isabel Hernández, Kristel R. van Eijk, Najada Stringa, Jason A. Chen, Anna Zettergren, Till F. M. Andlauer, Monica Diez-Fairen, Javier Simon-Sanchez, Alberto Lleó, Henrik Zetterberg, Marianne Nygaard, Cornelis Blauwendraat, Jeanne E. Savage, Jonas Mengel-From, Sonia Moreno-Grau, Mich
Published in: Acta Neuropathologica, Issue 138/2, 2019, Page(s) 237-250, ISSN 0001-6322
DOI: 10.1007/s00401-019-02026-8

Non-parametric combination analysis of multiple data types enables detection of novel regulatory mechanisms in T cells of multiple sclerosis patients

Author(s): Sunjay Jude Fernandes, Hiromasa Morikawa, Ewoud Ewing, Sabrina Ruhrmann, Rubin Narayan Joshi, Vincenzo Lagani, Nestoras Karathanasis, Mohsen Khademi, Nuria Planell, Angelika Schmidt, Ioannis Tsamardinos, Tomas Olsson, Fredrik Piehl, Ingrid Kockum, Maja Jagodic, Jesper Tegnér, David Gomez-Cabrero
Published in: Scientific Reports, Issue 9/1, 2019, ISSN 2045-2322
DOI: 10.1038/s41598-019-48493-7

Leveraging human genetics to inform intervention strategies for multiple sclerosis


Published in: ISSN 0028-3878
DOI: 10.1212/wnl.0000000000007298

Validation of rapid magnetic resonance myelin imaging in multiple sclerosis


Published in: ISSN 0364-5134
DOI: 10.1002/ana.25705

DeepWAS: Multivariate genotype-phenotype associations by directly integrating regulatory information using deep learning

Author(s): Janine Arloth, Gökcen Eraslan, Till F. M. Andlauer, Jade Martins, Stella Iurato, Brigitte Kühnel, Melanie Waldenberger, Josef Frank, Ralf Gold, Bernhard Hemmer, Felix Luessi, Sandra Nischwitz, Friedemann Paul, Heinz Wiendl, Christian Gieger, Stefanie Heilmann-Heimbach, Tim Kacprowski, Matthias Laudes, Thomas Meitinger, Annette Peters, Rajesh Rawal, Konstantin Strauch, Susanne Lucae, Bertram Mül
Published in: PLOS Computational Biology, Issue 16/2, 2020, Page(s) e1007616, ISSN 1553-7358
DOI: 10.1371/journal.pcbi.1007616

Low-Frequency and Rare-Coding Variation Contributes to Multiple Sclerosis Risk

Author(s): Mitja Mitrovič, Nikolaos A. Patsopoulos, Ashley H. Beecham, Theresa Dankowski, An Goris, Bénédicte Dubois, Marie B. D’hooghe, Robin Lemmens, Philip Van Damme, Helle Bach Søndergaard, Finn Sellebjerg, Per Soelberg Sorensen, Henrik Ullum, Lise W. Thørner, Thomas Werge, Janna Saarela, Isabelle Cournu-Rebeix, Vincent Damotte, Bertrand Fontaine, Lena Guillot-Noel, Mark Lathrop, Sandra Vukusik, P
Published in: Cell, Issue 175/6, 2018, Page(s) 1679-1687.e7, ISSN 0092-8674
DOI: 10.1016/j.cell.2018.09.049

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

Author(s): Patsopoulos, N.A., Baranzini, S.E., Santaniello, A., Shoostari, P., Cotsapas, C., Wong, G., Beecham, A.H., James, T., Replogle, J., Vlachos, I.S., McCabe, C., Pers, T.H., Brandes, A., White, C., Keenan, B., Cimpean, M., Winn, P., Panteliadis, I-P., Robbins, A., Andlauer, T.F M., Zarzycki, O., Dubois, B., Goris, A., Sondergaard, H.B., Sellebjerg, F., Sorensen, P.S., Ullum, H., Thorner, L.W., Saarel
Published in: Science, Issue 365/6460, 2019, Page(s) eaav7188, ISSN 0036-8075
DOI: 10.1126/science.aav7188

Molecular mimicry between Anoctamin 2 and Epstein-Barr virus nuclear antigen 1 associates with multiple sclerosis risk

Author(s): Katarina Tengvall, Jesse Huang, Cecilia Hellström, Patrick Kammer, Martin Biström, Burcu Ayoglu, Izaura Lima Bomfim, Pernilla Stridh, Julia Butt, Nicole Brenner, Angelika Michel, Karin Lundberg, Leonid Padyukov, Ingrid E. Lundberg, Elisabet Svenungsson, Ingemar Ernberg, Sigurgeir Olafsson, Alexander T. Dilthey, Jan Hillert, Lars Alfredsson, Peter Sundström, Peter Nilsson, Tim Waterboer, Tomas O
Published in: Proceedings of the National Academy of Sciences, Issue 116/34, 2019, Page(s) 16955-16960, ISSN 0027-8424
DOI: 10.1073/pnas.1902623116

Prognostic value of white matter lesion shrinking in early multiple sclerosis: An intuitive or naïve notion?

Author(s): Viola Pongratz, Paul Schmidt, Matthias Bussas, Sophia Grahl, Christian Gaser, Achim Berthele, Muna‐Miriam Hoshi, Jan Kirschke, Claus Zimmer, Bernhard Hemmer, Mark Mühlau
Published in: Brain and Behavior, Issue 9/12, 2019, ISSN 2162-3279
DOI: 10.1002/brb3.1417

Confounding effect of blood volume and body mass index on blood neurofilament light chain levels

Author(s): Ali Manouchehrinia, Fredrik Piehl, Jan Hillert, Jens Kuhle, Lars Alfredsson, Tomas Olsson, Ingrid Kockum
Published in: Annals of Clinical and Translational Neurology, Issue 7/1, 2019, Page(s) 139-143, ISSN 2328-9503
DOI: 10.1002/acn3.50972

A robust pipeline with high replication rate for detection of somatic variants in the adaptive immune system as a source of common genetic variation in autoimmune disease

Author(s): Lies Van Horebeek, Kelly Hilven, Klara Mallants, Annemarie Van Nieuwenhuijze, Tiina Kelkka, Paula Savola, Satu Mustjoki, Susan M Schlenner, Adrian Liston, Bénédicte Dubois, An Goris
Published in: Human Molecular Genetics, Issue 28/8, 2018, Page(s) 1369-1380, ISSN 0964-6906
DOI: 10.1093/hmg/ddy425

Somatic Variants: New Kids on the Block in Human Immunogenetics

Author(s): L. Van Horebeek, B. Dubois, A. Goris
Published in: Trends in Genetics, Issue 35/12, 2019, Page(s) 935-947, ISSN 0168-9525
DOI: 10.1016/j.tig.2019.09.005

Cytokine and immune cell profiling in the cerebrospinal fluid of patients with neuro-inflammatory diseases

Author(s): Gildas Lepennetier, Zsuzsanna Hracsko, Marina Unger, Martijn Van Griensven, Verena Grummel, Markus Krumbholz, Achim Berthele, Bernhard Hemmer, Markus C. Kowarik
Published in: Journal of Neuroinflammation, Issue 16/1, 2019, ISSN 1742-2094
DOI: 10.1186/s12974-019-1601-6

Blood neurofilament light levels segregate treatment effects in multiple sclerosis


Published in: ISSN 0028-3878
DOI: 10.1212/wnl.0000000000009097

A systems biology approach uncovers cell-specific gene regulatory effects of genetic associations in multiple sclerosis

Author(s): Madireddy, L., Patsopoulos, N.A., Cotsapas, C., Bos, S.D., Beecham, A., McCauley, J., Kim, K., Jia, X., Santaniello, A., Caillier, S.J., Andlauer, T.F M., Barcellos, L.F., Berge, T., Bernardinelli, L., Martinelli-Boneschi, F., Booth, D.R., Briggs, F., Celius, E.G., Comabella, M., Comi, G., Cree, B.A C., D'Alfonso, S., Dedham, K., Duquette, P., Efthimios, D., Esposito, F., Fontaine, B., Gasperi, C.
Published in: Nature Communications, Issue 10/1, 2019, ISSN 2041-1723
DOI: 10.1038/s41467-019-09773-y