Journal Article


M J Owen
M C O'Donovan
S A McCarroll
P V Gejman
P F Sullivan
C Hultman
P Sklar
N Craddock
A Corvin
M Gill
and 26 others



population variants schizophrenia mutation disorders general rare individuals

Evidence that duplications of 22q11.2 protect against schizophrenia. (2013)

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.
Collections Ireland -> Trinity College Dublin -> PubMed

Full list of authors on original publication

M J Owen, M C O'Donovan, S A McCarroll, P V Gejman, P F Sullivan, C Hultman, P Sklar, N Craddock, A Corvin, M Gill and 26 others

Experts in our system

Michael J Owen
Royal College of Surgeons in Ireland
Total Publications: 19
M C O'Donovan
Trinity College Dublin
Total Publications: 18
P F Sullivan
Trinity College Dublin
Total Publications: 12
Aiden Corvin
Trinity College Dublin
Total Publications: 190
Michael Gill
Trinity College Dublin
Total Publications: 260