Evidence that duplications of 22q11.2 protect against schizophrenia

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 dupli...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2014
Materias:
Immediate Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3873028/
https://www.ncbi.nlm.nih.gov/pubmed/24217254
http://dx.doi.org/10.1038/mp.2013.156
Descripción
Sumario: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.

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