Scientific Publications

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

Publication TypeJournal Article
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 Consortium, Craddock N., Sklar P., Hultman C., Sullivan PF, Gejman PV, McCarroll SA, O'Donovan MC, and Owen MJ
AbstractA 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 Publication2014
JournalMolecular psychiatry
Date Published (YYYY/MM/DD)2014/01/01
ISSN Number1359-4184