Cited by 369Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersGenetic Associations and Epidemiology

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Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers

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Cook, Edwin H., Courchesne, Rachel Y., Cox, Nancy J., Lord, Catherine, Gonen, David, Guter, Stephen J., Lincoln, Alan, Nix, Kristi, Haas, Richard, Leventhal, Bennett L., Courchesne, Eric·1998·The American Journal of Human Genetics

DOI 10.1086/301832PMC PMC1377089

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Abstract

Autistic disorder is a complex genetic disease. Because of previous reports of individuals with autistic disorder with duplications of the Prader-Willi/Angelman syndrome critical region, we screened several markers across the 15q11-13 region, for linkage disequilibrium. One hundred forty families, consisting predominantly of a child with autistic disorder and both parents, were studied. Genotyping was performed by use of multiplex PCR and capillary electrophoresis. Two children were identified who had interstitial chromosome 15 duplications and were excluded from further linkage-disequilibrium analysis. Use of the multiallelic transmission-disequilibrium test (MTDT), for nine loci on 15q11-13, revealed linkage disequilibrium between autistic disorder and a marker in the gamma-aminobutyric acidA receptor subunit gene, GABRB3 155CA-2 (MTDT 28.63, 10 df, P=.0014). No evidence was found for parent-of-origin effects on allelic transmission. The convergence of GABRB3 as a positional and functional candidate along with the linkage-disequilibrium data suggests the need for further investigation of the role of GABRB3 or adjacent genes in autistic disorder.

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Authors: Cook, E. H., Courchesne, R. Y., Cox, N. J., Lord, C., Gonen, D., Guter, S. J., Lincoln, A., Nix, K., Haas, R., Leventhal, B. L., & Courchesne, E.
Affiliations: University of Chicago (US)
University of California San Diego (US)
Corresponding author: Cook, Edwin H.
ORCID: Cook, Edwin H.
Cox, Nancy J.
Lord, Catherine
Guter, Stephen J.
Lincoln, Alan
Haas, Richard
Leventhal, Bennett L.
Courchesne, Eric
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 1998-05
Volume: 62
Issue: 5
Pages: 1077-1083
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/301832
PMC: PMC1377089
OpenAlex: W2159457615
Cited by: 369
References: 61
Citations by year: 2026: 3 · 2025: 2 · 2024: 4 · 2023: 4 · 2022: 6 · 2021: 6 · 2020: 10 · 2019: 3 · 2018: 7 · 2017: 6 · 2016: 6 · 2015: 4 · 2014: 10 · 2013: 19 · 2012: 16
FWCI: 14.08
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, 5558 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health (5k02mh001389-03, 5r01mh052223-05)
National Institute of Mental Health (K05 MH01196, R01 MH52223, K05MH001196, 5 K02 MH01389)
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: autistic disorder, linkage disequilibrium, 15q11-13, GABRB3, GABAA receptor subunits, transmission disequilibrium test, parent-of-origin effects, candidate genes
MeSH terms: Autistic Disorder, Child, Chromosome Mapping, Chromosomes, Human, Pair 15, Female, Genetic Markers, Humans, Male, Linkage Disequilibrium

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Linkage-Disequilibrium Mapping of Autistic Disorder, with 15q11-13 Markers

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