A genomewide screen for autism susceptibility loci
Open accessAbstract
We report the analysis of 335 microsatellite markers genotyped in 110 multiplex families with autism. All families include at least two "affected" siblings, at least one of whom has autism; the remaining affected sibs carry diagnoses of either Asperger syndrome or pervasive developmental disorder. Affected sib-pair analysis yielded multipoint maximum LOD scores (MLS) that reach the accepted threshold for suggestive linkage on chromosomes 5, X, and 19. Nominal evidence for linkage (point-wise P<.05) was obtained on chromosomes 2, 3, 4, 8, 10, 11, 12, 15, 16, 18, and 20, and secondary loci were found on chromosomes 5 and 19. Analysis of families sharing alleles at the putative X chromosomal linked locus and one or more other putative linked loci produced an MLS of 3.56 for the DXS470-D19S174 marker combination. In an effort to increase power to detect linkage, scan statistics were used to evaluate the significance of peak LOD scores based on statistical evidence at adjacent marker loci. This analysis yielded impressive evidence for linkage to autism and autism-spectrum disorders with significant genomewide P values <.05 for markers on chromosomes 5 and 8 and with suggestive linkage evidence for a marker on chromosome 19.
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CNTNAP2 has previously been implicated in ASD, in part because it resides within regions of suggestive linkage.
“CNTNAP2 is one of the largest genes in the human genome encompassing ∼1.5% of chromosome 7 and has previously been implicated in ASD, in part because it resides within regions of suggestive linkage (39).”
From Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) · cites this paper as [39]
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- Authors
- Liu, J., Nyholt, D. R., Magnussen, P., Parano, E., Pavone, P., Geschwind, D., Lord, C., Iversen, P., Hoh, J., Autism Genetic Resource Exchange Consortium, T., Ott, J., & Gilliam, T. C.
- Affiliations
- Columbia University (US)
- Rockefeller University (US)
- University of Catania (IT)
- University of California, Los Angeles (US)
- University of Chicago (US)
- Corresponding author
- Gilliam, T. Conrad
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-08
- Volume
- 69
- Issue
- 2
- Pages
- 327-340
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1235325
- OpenAlex
- W2031827634
- Cited by
- 309
- References
- 55
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 2 · 2023: 3 · 2022: 4 · 2021: 7 · 2020: 4 · 2019: 1 · 2018: 2 · 2017: 8 · 2016: 3 · 2015: 6 · 2014: 9 · 2013: 10 · 2012: 12
- FWCI
- 17.12
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- 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, affected sib-pair analysis, microsatellite markers, scan statistics, chromosome 5, chromosome 8, chromosome 19, Asperger syndrome, pervasive developmental disorders
- MeSH terms
- Autistic Disorder, Child, Developmental Disabilities, Chromosome Mapping, Chromosomes, Human, Pair 19, Chromosomes, Human, Pair 5, Female, Genetic Testing, Genotype, Humans, Genetic Linkage, Lod Score, Male, Molecular Sequence Data, Nuclear Family, X Chromosome, Microsatellite Repeats, Genetic Predisposition to Disease, Asperger Syndrome
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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