Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 82, Issue 1, Pages 150-159Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2007.09.005
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Funding
- NATIONAL INSTITUTE OF MENTAL HEALTH [R01MH076431, R01MH064547] Funding Source: NIH RePORTER
- NIMH NIH HHS [R01 MH076431, R01 MH64547, R01 MH064547] Funding Source: Medline
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Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios(1,2) and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CATTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.
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