Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2811756 | The American Journal of Human Genetics | 2008 | 5 Pages |
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.
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Authors
Dan E. Arking, David J. Cutler, Camille W. Brune, Tanya M. Teslovich, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy, Shin Lin, Edwin H. Cook Jr., Aravinda Chakravarti,