Cited by 818Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

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Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

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Alarcón, Maricela, Abrahams, Brett S., Stone, Jennifer L., Duvall, Jacqueline A., Perederiy, Julia V., Bomar, Jamee M., Sebat, Jonathan, Wigler, Michael, Martin, Christa L., Ledbetter, David H., Nelson, Stanley F., Cantor, Rita M., Geschwind, Daniel H.·2008·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2007.09.005PMC PMC2253955

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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) trios 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.

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Authors: Alarcón, M., Abrahams, B. S., Stone, J. L., Duvall, J. A., Perederiy, J. V., Bomar, J. M., Sebat, J., Wigler, M., Martin, C. L., Ledbetter, D. H., Nelson, S. F., Cantor, R. M., & Geschwind, D. H.
Affiliations: University of California, Los Angeles (US)
Cold Spring Harbor Laboratory (US)
Emory University (US)
Corresponding author: Geschwind, Daniel H.
ORCID: Sebat, Jonathan
Wigler, Michael
Ledbetter, David H.
Nelson, Stanley F.
Cantor, Rita M.
Geschwind, Daniel H.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2008-01
Volume: 82
Issue: 1
Pages: 150-159
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2007.09.005
PMC: PMC2253955
OpenAlex: W2126538155
Cited by: 818
References: 67
Citations by year: 2026: 15 · 2025: 12 · 2024: 19 · 2023: 19 · 2022: 26 · 2021: 35 · 2020: 29 · 2019: 28 · 2018: 28 · 2017: 52 · 2016: 43 · 2015: 53 · 2014: 48 · 2013: 69 · 2012: 82
FWCI: 44.76
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2026 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Cold Spring Harbor Laboratory Institutional Repository (Cold Spring Harbor Laboratory) (acceptedVersion)
Funders: National Institute of Mental Health (R01MH64547, R01MH064547, R01MH076431)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: CNTNAP2, autism susceptibility, language development, neurexin, genetic linkage, genetic association, trios, brain gene expression, neurodevelopmental disorders
MeSH terms: Autistic Disorder, Brain, Child, Chromosomes, Human, Pair 7, Female, Humans, Language Development, Male, Membrane Proteins, Nerve Tissue Proteins, Gene Expression, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide

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Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene

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