@article{43928a73714844a2b6a5df7eae1d693d,
title = "Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene",
abstract = "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) trios1,2 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 CNTNAP2 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.",
author = "Maricela Alarc{\'o}n and Abrahams, {Brett S.} and Stone, {Jennifer L.} and Duvall, {Jacqueline A.} and Perederiy, {Julia V.} and Bomar, {Jamee M.} and Jonathan Sebat and Michael Wigler and Martin, {Christa L.} and Ledbetter, {David H.} and Nelson, {Stanley F.} and Cantor, {Rita M.} and Geschwind, {Daniel H.}",
note = "Funding Information: We are grateful to the AGRE families who participated in this study and made the resource possible and to the AGRE Consortium (see below) for their oversight of the resource. We also thank Kelly Fraser and David Cox of Perlegen Sciences for their help with Stage 1 genotyping and Kaela B. Chiu for helpful discussions. This project was supported by NIMH grant R01 MH64547 (to D.H.G.), R01 MH076431 (to J.S.), a NARSAD Young Investigator award (to M.A.), a MIND Institute Fellowship (to J.A.D.), an NRSA from NINDS (to J.A.D.), a Tourette Syndrome Association Fellowship (to B.S.A.), the UCLA Center for Autism Research and Treatment (NIMH, to D.H.G.), the Cure Autism Now foundation (to AGRE, D.H.G., and J.S.), The Simons Foundation (to J.S.), and cofunding from the National Alliance for Autism Research and the Southwestern Autism Research and Resource Center (to J.S.). The authors declare that they have no competing financial interests. ",
year = "2008",
month = jan,
day = "10",
doi = "10.1016/j.ajhg.2007.09.005",
language = "English (US)",
volume = "82",
pages = "150--159",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",
}