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

Mol Psychiatry
Authors
Keywords
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.

Year of Publication
2014
Journal
Mol Psychiatry
Volume
19
Issue
1
Pages
37-40
Date Published
2014 Jan
ISSN
1476-5578
URL
DOI
10.1038/mp.2013.156
PubMed ID
24217254
PubMed Central ID
PMC3873028
Links
Grant list
090532/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