A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism

被引：430

作者：

Arking, Dan E. ^{[1
]}

Cutler, David J. ^{[1
]}

Brune, Camille W. ^{[2
]}

Teslovich, Tanya M. ^{[1
]}

West, Kristen ^{[1
]}

Ikeda, Morna ^{[1
]}

Rea, Alexis ^{[1
]}

Guy, Moltu ^{[1
]}

Lin, Shin ^{[1
]}

Cook, Edwin H., Jr. ^{[2
]}

Chakravarti, Aravinda ^{[1
]}

机构：

[1] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USA

[2] Univ Illinois, Dept Psychiat, Inst Juvenile Res, Chicago, IL 60612 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 82卷 / 01期

关键词：

D O I：

10.1016/j.ajhg.2007.09.015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism.

引用

页码：160 / 164

页数：5

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