A Genomic Screen of Autism: Evidence for a Multilocus Etiology
Open accessAbstract
We have conducted a genome screen of autism, by linkage analysis in an initial set of 90 multiplex sibships, with parents, containing 97 independent affected sib pairs (ASPs), with follow-up in 49 additional multiplex sibships, containing 50 ASPs. In total, 519 markers were genotyped, including 362 for the initial screen, and an additional 157 were genotyped in the follow-up. As a control, we also included in the analysis unaffected sibs, which provided 51 discordant sib pairs (DSPs) for the initial screen and 29 for the follow-up. In the initial phase of the work, we observed increased identity by descent (IBD) in the ASPs (sharing of 51.6%) compared with the DSPs (sharing of 50.8%). The excess sharing in the ASPs could not be attributed to the effect of a small number of loci but, rather, was due to the modest increase in the entire distribution of IBD. These results are most compatible with a model specifying a large number of loci (perhaps >/=15) and are less compatible with models specifying </=10 loci. The largest LOD score obtained in the initial scan was for a marker on chromosome 1p; this region also showed positive sharing in the replication family set, giving a maximum multipoint LOD score of 2.15 for both sets combined. Thus, there may exist a gene of moderate effect in this region. We had only modestly positive or negative linkage evidence in candidate regions identified in other studies. Our results suggest that positional cloning of susceptibility loci by linkage analysis may be a formidable task and that other approaches may be necessary.
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Available evidence from family and twin studies, and results to date from linkage studies, suggest that for most cases the simplest model of autism involves the interaction of multiple genes.
“Available evidence from family and twin studies, and the results to date from linkage studies, suggest that, for most cases, the simplest model of autism involves the interaction of multiple genes (Risch et al. 1999).”
From Sociability and preference for social novelty in five inbred strains: an approach to assess autistic‐like behavior in mice (2004) · cites this paper as Risch et al. 1999
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- Authors
- Risch, N., Spiker, D., Lotspeich, L., Nouri, N., Hinds, D., Hallmayer, J., Kalaydjieva, L., McCague, P., Dimiceli, S., Pitts, T., Nguyen, L., Yang, J., Harper, C., Thorpe, D., Vermeer, S., Young, H., Hebert, J., Lin, A., Ferguson, J., Chiotti, C., Wiese-Slater, S., Rogers, T., Salmon, B., Nicholas, P., Petersen, P. B., Pingree, C., McMahon, W., Wong, D. L., Cavalli-Sforza, L. L., Kraemer, H. C., & Myers, R. M.
- Affiliations
- Stanford Medicine (US)
- The University of Western Australia (AU)
- Edith Cowan University (AU)
- University of Utah (US)
- Corresponding author
- Risch, Neil
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1999-08
- Volume
- 65
- Issue
- 2
- Pages
- 493-507
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1377948
- OpenAlex
- W2154131855
- Cited by
- 684
- References
- 2
- Citations by year
- 2026: 1 · 2025: 2 · 2024: 4 · 2023: 8 · 2022: 5 · 2021: 23 · 2020: 10 · 2019: 6 · 2018: 4 · 2017: 9 · 2016: 9 · 2015: 18 · 2014: 16 · 2013: 18 · 2012: 25
- FWCI
- 25.10
- 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)
- UWA Profiles and Research Repository (UWA) (submittedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- National Institutes of Health (5p01mh039437-08)
- Medical Research Council
- National Institute of Mental Health (R01MH052708, MH00219, MH52708, MH-39437)
- 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 linkage, affected sibships, identity by descent, multiplex families, chromosome 1p, genetic susceptibility loci, positional cloning
- MeSH terms
- Adolescent, Adult, Autistic Disorder, Child, Child, Preschool, Chromosomes, Human, Female, Genotype, Humans, Intelligence Tests, Genetic Linkage, Male, Models, Genetic, Molecular Sequence Data, Nuclear Family, Sex Factors, Linkage Disequilibrium, Statistical Distributions, Matched-Pair Analysis, Microsatellite Repeats, Multifactorial Inheritance
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