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Mol Psychiatry DOI:10.1038/mp.2013.156

Evidence that duplications of 22q11.2 protect against schizophrenia.

Publication TypeJournal Article
Year of Publication2014
AuthorsRees, E, Kirov, G, Sanders, A, Walters, JTR, Chambert, KD, Shi, J, Szatkiewicz, J, O'Dushlaine, C, Richards, AL, Green, EK, Jones, I, Davies, G, Legge, SE, Moran, JL, Pato, C, Pato, M, Genovese, G, Levinson, D, Duan, J, Moy, W, Göring, HHH, Morris, D, Cormican, P, Kendler, KS, O'Neill, FA, Riley, B, Gill, M, Corvin, A, Craddock, N, Sklar, P, Hultman, C, Sullivan, PF, Gejman, PV, McCarroll, SA, O'Donovan, MC, Owen, MJ
Corporate AuthorsWellcome Trust Case Control Consortium
JournalMol Psychiatry
Volume19
Issue1
Pages37-40
Date Published2014 Jan
ISSN1476-5578
KeywordsAbnormalities, Multiple, Chromosome Duplication, Chromosomes, Human, Pair 22, DiGeorge Syndrome, DNA Copy Number Variations, Female, Genetic Predisposition to Disease, Humans, Male, Schizophrenia
Abstract

A number of large, rare copy number variants (CNVs) are deleterious for neurodevelopmental disorders, but large, rare, protective CNVs have not been reported for such phenotypes. Here we show in a CNV analysis of 47 005 individuals, the largest CNV analysis of schizophrenia to date, that large duplications (1.5-3.0 Mb) at 22q11.2--the reciprocal of the well-known, risk-inducing deletion of this locus--are substantially less common in schizophrenia cases than in the general population (0.014% vs 0.085%, OR=0.17, P=0.00086). 22q11.2 duplications represent the first putative protective mutation for schizophrenia.

URLhttp://dx.doi.org/10.1038/mp.2013.156
DOI10.1038/mp.2013.156
Pubmed

http://www.ncbi.nlm.nih.gov/pubmed/24217254?dopt=Abstract

Alternate JournalMol. Psychiatry
PubMed ID24217254
PubMed Central IDPMC3873028
Grant List090532/Z/09/Z / / Wellcome Trust / United Kingdom
R01MH094091 / MH / NIMH NIH HHS / United States
R01 MH095034 / MH / NIMH NIH HHS / United States
5R01ES011740 / 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
R01 MH077139 / MH / NIMH NIH HHS / United States
MH083094 / MH / NIMH NIH HHS / United States
075491/Z/04/B / / Wellcome Trust / 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
P50 DA019706 / DA / NIDA NIH HHS / United States
MH 41953 / MH / NIMH NIH HHS / United States
HHSN268200782096C / HG / NHGRI NIH HHS / United States
R01 MH041953 / MH / NIMH NIH HHS / United States
P50 CA084724 / CA / NCI NIH HHS / United States
R01 EY020483 / EY / NEI NIH HHS / United States
G0800509 / / Medical Research Council / United Kingdom
R01 MH094091 / MH / NIMH NIH HHS / United States
5R01CA133996 / CA / NCI NIH HHS / United States
085475/B/08/Z / / Wellcome Trust / United Kingdom
RC2MH090030 / MH / NIMH NIH HHS / United States
R01 MH083094 / MH / NIMH NIH HHS / United States
U01 MH094421 / MH / NIMH NIH HHS / United States
G0801418 / / Medical Research Council / United Kingdom
MR/L010305/1 / / Medical Research Council / United Kingdom
K01 MH093517 / MH / NIMH NIH HHS / United States
P50 CA093459 / CA / NCI NIH HHS / United States
RC2 MH090030 / MH / NIMH NIH HHS / United States
085475/Z/08/Z / / Wellcome Trust / United Kingdom
072894/Z/03/Z / / Wellcome Trust / United Kingdom