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

ABSTRACT: 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.

SUBMITTER: Arking DE

PROVIDER: S-EPMC2253968 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature

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

Arking Dan E DE Cutler David J DJ Brune Camille W CW Teslovich Tanya M TM West Kristen K Ikeda Morna M Rea Alexis A Guy Moltu M Lin Shin S Cook Edwin H EH Chakravarti Aravinda A

American journal of human genetics 20080101 1

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 ...[more]

PMID: 18179894

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