Article
Evidence that duplications of 22q11.2 protect against schizophrenia.
Molecular psychiatry - 1 Jan 2014
Rees E, Kirov G, Sanders A, Walters J T R, Chambert K D, Shi J, Szatkiewicz J, O'Dushlaine C, Richards A L, Green E K, Jones I, Davies G, Legge S E, Moran J L, Pato C, Pato M, Genovese G, Levinson D, Duan J, Moy W, Göring H H H, Morris D, Cormican P, Kendler K S, O'Neill F A, Riley B, Gill M, Corvin A, Craddock N, Sklar P, Hultman C, Sullivan P F, Gejman P V, McCarroll S A, O'Donovan M C, Owen M J
Abstract excerpt
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...
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