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Copy number variations conferring risk of psychiatric disorders in children

Objective

The recent technical improvements for the study of the cytogenetic basis of disease have led to the identification of many microdeletion and microduplication syndromes. De novo copy number variants (CNVs) are seen more often than expected in autistic patients, and rare chromosomal aberrations are known to account for a small fraction of schizophrenia and bipolar disorder. Recurrent spontaneous mutations at multiple sites across the genome may be a prime cause of these disorders, and the reduced fertility associated particularly with autism and schizophrenia may, through selection pressure, maintain these variants at very low frequency. CNVs are large enough to be identified using cost efficient genome-wide search techniques, such as oligonucleotide arrays. In contrast, rare DNA mutations might confer a large proportion of the overall genetic risk, but cannot be easily identified at the present time. Genetic epidemiology suggests that autism, bipolar disorder, and schizophrenia are highly heritable and share susceptibility genes. However, the results of dense SNP array-based genome wide association scans for these disorders have been disappointing, as no high frequency risk alleles have been identified. The PsychCNVs consortium will apply oligonucleotide arrays for the large-scale interrogation of CNV variation in the human genome, focusing on people with autism and childhood onset schizophrenia and bipolar disorder, where CNVs are likely to be more common. This project follows on logically from our hypothesis-independent genome-wide SNP search for common variants, we now intend to systematically search for large, rare CNVs conferring high risk. The genetic risk conferred by CNVs will be estimated by genotyping samples from 2800 patients, to identify de novo or recent spontaneous mutations. Until low cost whole genome sequencing becomes available this approach offers the best current hope to identify causative genomic variants for these disorders.

Field of science

  • /natural sciences/biological sciences/genetics and heredity/mutation
  • /medical and health sciences/clinical medicine/psychiatry/schizophrenia
  • /social sciences/sociology/demography/fertility
  • /natural sciences/biological sciences/genetics and heredity/genome
  • /medical and health sciences/health sciences/epidemiology

Call for proposal

FP7-HEALTH-2007-B
See other projects for this call

Funding Scheme

CP-FP - Small or medium-scale focused research project

Coordinator

ISLENSK ERFDAGREINING EHF
Address
Sturlugotu 8
101 Reykjavik
Iceland
Activity type
Private for-profit entities (excluding Higher or Secondary Education Establishments)
EU contribution
€ 761 558
Administrative Contact
Bjorgvin Richardsson (Mr.)

Participants (7)

LANDSPITALI UNIVERSITY HOSPITAL
Iceland
EU contribution
€ 160 500
Address
Eiriksgata 5
101 Reykjavik
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Hannes Petursson (Prof.)
KING'S COLLEGE LONDON
United Kingdom
EU contribution
€ 569 940
Address
Strand
WC2R 2LS London
Activity type
Higher or Secondary Education Establishments
Administrative Contact
David Collier (Prof.)
NATIONAL RESEARCH CENTER OF MENTAL HEALTH - RUSSIAN ACADEMY OF MEDICAL SCIENCES
Russia
EU contribution
€ 545 400
Address
Kashirskoe Sh 34
115522 Moscow
Activity type
Research Organisations
Administrative Contact
Vera Golimbet (Dr.)
UKRAINE RESEARCH INSTITUTE OF SOCIAL AND FORENSIC PSYCHIATRY AND DRUG ABUSE OF THE MINISTRY OF HEALTH
Ukraine
EU contribution
€ 240 600
Address
Frunze Street 103
04080 Kyiv
Activity type
Research Organisations
Administrative Contact
Igor Martsenkovsky (Prof.)
Tbilisi State Medical University
Georgia
EU contribution
€ 240 600
Address
Vazha-pshavela Ave 33
0177 Tbilisi
Activity type
Higher or Secondary Education Establishments
Administrative Contact
Irakli Evdoshvili (Dr.)
UNIVERSITY CLINIC OF PSYCHIATRY
North Macedonia
EU contribution
€ 240 600
Address
Ul Belgradska B B
Skopje
Activity type
Research Organisations
Administrative Contact
Antoni Novotni (Prof.)
INSTITUT ZA MENTALNO ZDRAVLJE
Serbia
EU contribution
€ 240 600
Address
Palmoticeva 37
11000 Beograd
Activity type
Research Organisations
Administrative Contact
Smiljka Popovic Deusic (Prof.)