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Br J Psychiatry DOI:10.1192/bjp.bp.113.131052

Analysis of copy number variations at 15 schizophrenia-associated loci.

Publication TypeJournal Article
Year of Publication2014
AuthorsRees, E, Walters, JTR, Georgieva, L, Isles, AR, Chambert, KD, Richards, AL, Mahoney-Davies, G, Legge, SE, Moran, JL, McCarroll, SA, O'Donovan, MC, Owen, MJ, Kirov, G
JournalBr J Psychiatry
Volume204
Issue2
Pages108-14
Date Published2014 Feb
ISSN1472-1465
KeywordsAdolescent, Adult, Aged, Aged, 80 and over, Angelman Syndrome, Case-Control Studies, Chromosome Deletion, DNA Copy Number Variations, Female, Genetic Loci, Genetic Predisposition to Disease, Genomic Imprinting, Genotyping Techniques, Humans, Male, Middle Aged, Prader-Willi Syndrome, Schizophrenia, Young Adult
Abstract

BACKGROUND: A number of copy number variants (CNVs) have been suggested as susceptibility factors for schizophrenia. For some of these the data remain equivocal, and the frequency in individuals with schizophrenia is uncertain.

AIMS: To determine the contribution of CNVs at 15 schizophrenia-associated loci (a) using a large new data-set of patients with schizophrenia (n = 6882) and controls (n = 6316), and (b) combining our results with those from previous studies.

METHOD: We used Illumina microarrays to analyse our data. Analyses were restricted to 520 766 probes common to all arrays used in the different data-sets.

RESULTS: We found higher rates in participants with schizophrenia than in controls for 13 of the 15 previously implicated CNVs. Six were nominally significantly associated (P

CONCLUSIONS: We strengthen the support for the majority of the previously implicated CNVs in schizophrenia. About 2.5% of patients with schizophrenia and 0.9% of controls carry a large, detectable CNV at one of these loci. Routine CNV screening may be clinically appropriate given the high rate of known deleterious mutations in the disorder and the comorbidity associated with these heritable mutations.

URLhttp://bjp.rcpsych.org/cgi/pmidlookup?view=long&pmid=24311552
DOI10.1192/bjp.bp.113.131052
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24311552?dopt=Abstract

Alternate JournalBr J Psychiatry
PubMed ID24311552
PubMed Central IDPMC3909838
Grant List5R01ES011740 / ES / NIEHS NIH HHS / United States
U01 HG004446 / HG / NHGRI NIH HHS / United States
R01 CA133996 / CA / NCI NIH HHS / United States
P50 CA097007 / CA / NCI NIH HHS / United States
3P50CA093459 / CA / NCI NIH HHS / United States
G0801418 / / Medical Research Council / United Kingdom
G0601635 / / Medical Research Council / United Kingdom
P01 CA089392 / CA / NCI NIH HHS / United States
5P50CA097007 / CA / NCI NIH HHS / United States
R01 ES011740 / ES / NIEHS NIH HHS / United States
/ / Biotechnology and Biological Sciences Research Council / United Kingdom
P50 DA019706 / DA / NIDA NIH HHS / United States
HHSN268200782096C / HG / NHGRI NIH HHS / United States
P50 CA084724 / CA / NCI NIH HHS / United States
R01 EY020483 / EY / NEI NIH HHS / United States
5R01CA133996 / CA / NCI NIH HHS / United States
HHSN268200782096C / / PHS HHS / United States
MR/L010305/1 / / Medical Research Council / United Kingdom
G0800509 / / Medical Research Council / United Kingdom
P50 CA093459 / CA / NCI NIH HHS / United States
/ / Wellcome Trust / United Kingdom