A Common Genetic variant in the neurexin superfamily member CNTNAP2 increases Familial Risk of Autism

Published December 1, 2008 in American Journal of Human Genetics, Arking, Cutler, et al

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.

http://www.ncbi.nlm.nih.gov/pubmed/18179894

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