Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 82, Issue 1, Pages 160-164Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2007.09.015
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Funding
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH052708, P01MH039437, R01MH060007, R10MH055135, R01MH055284, R01MH061009, R01MH064547, R10MH055284, R01MH055135] Funding Source: NIH RePORTER
- NIMH NIH HHS [MH61009, MH55284, MH60007, MH00219, MH52708, MH39437, MH55135, MH00980, R01 MH064547, R01 MH055284, R01 MH060007, MH64547, R01 MH061009] Funding Source: Medline
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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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