Article
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
Molecular psychiatry - 1 Feb 2012
Kirov G, Pocklington A J, Holmans P, Ivanov D, Ikeda M, Ruderfer D, Moran J, Chambert K, Toncheva D, Georgieva L, Grozeva D, Fjodorova M, Wollerton R, Rees E, Nikolov I, van de Lagemaat L N, Bayés A, Fernandez E, Olason P I, Böttcher Y, Komiyama N H, Collins M O, Choudhary J, Stefansson K, Stefansson H, Grant S G N, Purcell S, Sklar P, O'Donovan M C, Owen M J
Abstract excerpt
A small number of rare, recurrent genomic copy number variants (CNVs) are known to substantially increase susceptibility to schizophrenia. As a consequence of the low fecundity in people with schizophrenia and other neurodevelopmental phenotypes to which these CNVs contribute, CNVs with large effects on risk are likely to be rapidly removed from the population by natural selection. Accordingly, such CNVs must...
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