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Molecular 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, 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, C, Craddock, N, Sklar, P, Hultman, C, Sullivan, PF, Gejman, PV, McCarroll, SA, O'Donovan, MC, Owen, MJ
JournalMolecular psychiatry
Date Published2014/01/01

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.