Genome-Wide Scan for Autism Susceptibility Genes
Abstract
Family and twin studies have suggested a genetic component in autism. We performed a genome-wide screen with 264 microsatellites markers in 51 multiplex families, using non-parametric linkage methods. Families were recruited by a collaborative group including clinicians from Sweden, France, Norway, the USA, Italy, Austria and Belgium. Using two-point and multipoint affected sib-pair analyses, 11 regions gave nominal P -values of 0.05 or lower. Four of these regions overlapped with regions on chromosomes 2q, 7q, 16p and 19p identified by the first genome-wide scan of autism performed by the International Molecular Genetic Study of Autism Consortium. Another of our potential susceptibility regions overlapped with the 15q11-q13 region identified in previous candidate gene studies. Our study revealed six additional regions on chromosomes 4q, 5p, 6q, 10q, 18q and Xp. We found that the most significant multipoint linkage was close to marker D6S283 (maximum lod score = 2.23, P = 0.0013).
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Lifetime risk differs substantially by sex for ADHD, AN, ASD, MDD, and SCZ.
“For example, marked sex differences in lifetime risk are apparent for ADHD, AN, ASD, MDD, and SCZ (Hudson et al., 2007; Martin et al., 2018b; Philippe et al., 1999).”
From Defining the genetic, genomic, cellular, and diagnostic architectures of psychiatric disorders (2019) · cites this paper as Philippe et al., 1999
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- Authors
- Philippe, A., Martinez, M., Guilloud-Bataille, M., Gillberg, C., Rastam, M., Sponheim, E., Coleman, M., Zappella, M., Aschauer, H., Van Maldergem, L., Penet, C., Feingold, J., Brice, A., Leboyer, M., & Study, P. A. R. I. S.
- Affiliations
- Inserm (FR)
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-05-01
- Volume
- 8
- Issue
- 5
- Pages
- 805-812
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2158631587
- Cited by
- 471
- References
- 28
- Citations by year
- 2026: 1 · 2024: 2 · 2023: 3 · 2022: 3 · 2021: 3 · 2020: 2 · 2019: 3 · 2018: 8 · 2017: 3 · 2016: 13 · 2015: 5 · 2014: 6 · 2013: 12 · 2012: 10
- FWCI
- 22.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- HighWire Press Open Archive (submittedVersion)
- Funders
- Eli Lilly and Company
- Institut National de la Santé et de la Recherche Médicale
- Fondation pour la Recherche Médicale
- Vetenskapsrådet
- 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
- autism spectrum disorder, genetic susceptibility, genome-wide linkage analysis, affected sib-pair analysis, microsatellite markers, chromosome 15q11-q13, chromosome 2q, chromosome 7q, chromosome 16p, chromosome 19p, X chromosome, multiplex families
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosomes, Human, Female, Genetic Markers, Humans, Genetic Linkage, Male, Pedigree, Genetic Predisposition to Disease
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