Schizophrenia: a common disease caused by multiple rare alleles

被引：215

作者：

McClellan, Jon M.

Susser, Ezra

King, Mary-Claire

机构：

[1] Univ Washington, Dept Psychiat, Seattle, WA 98195 USA

[2] Columbia Univ, Dept Epidemiol, Mailman Sch Publ Hlth, Dept Psychiat, New York, NY USA

[3] New York State Psychiat Inst & Hosp, New York, NY 10032 USA

[4] Univ Washington, Dept Genome Sci, Seattle, WA 98195 USA

[5] Univ Washington, Dept Med Med Genet, Seattle, WA 98195 USA

来源：

BRITISH JOURNAL OF PSYCHIATRY | 2007年 / 190卷

关键词：

D O I：

10.1192/bjp.bp.106.025585

中图分类号：

R749 [精神病学];

学科分类号：

100205 ;

摘要：

Schizophrenia is widely held to stem from the combined effects of multiple common polymorphisms, each with a small impact on disease risk. We suggest an alternative view: that schizophrenia is highly heterogeneous genetically and that many predisposing mutations are highly penetrant and individually rare, even specific to single cases or families. This common disease rare alleles' hypothesis is supported by recent findings in human genomics and by allelic and locus heterogeneity for other complex traits. We review the implications of this model for gene discovery research in schizophrenia.

引用

页码：194 / 199

页数：6

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