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Title: Evidence that duplications of 22q11.2 protect against schizophrenia.
Authors: Rees E,  Kirov G,  Sanders A,  Walters JT,  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 HH,  Morris D,  Cormican P,  Kendler KS,  O'Neill FA,  Riley B,  Gill M,  Corvin A,  Wellcome Trust Case Control Consortium,  Craddock N,  Sklar P,  Hultman C,  Sullivan PF,  Gejman PV,  McCarroll SA,  O'Donovan MC,  Owen MJ
Journal: Mol Psychiatry
Date: 2014 Jan
Branches: BB
PubMed ID: 24217254
PMC ID: PMC3873028
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.