Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers
Open accessAbstract
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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The behavioral phenotypes associated with 15q11-q13 defects show a parent-of-origin specific effect on phenotypic expression.
“The behavioral phenotypes associated with 15q11–q13 defects show a parent-of-origin specific effect on phenotypic expression.”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [189]
Maternally derived duplications of 15q11-q13 convey a high risk of autism.
“More specifically, it is the maternally derived duplications that convey a high risk of autism (189–191).”
From Gene × Environment Interactions in Autism Spectrum Disorders: Role of Epigenetic Mechanisms (2014) · cites this paper as [189]
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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
- 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)
- 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
- 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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