The DOI matches its Crossref record; 66 of the 72 references it cites were found in a registry or an index.
A Genomewide Screen for Autism: Strong Evidence for Linkage to Chromosomes 2q, 7q, and 16p
Open accessAbstract
Autism is characterized by impairments in reciprocal communication and social interaction and by repetitive and stereotyped patterns of activities and interests. Evidence for a strong underlying genetic predisposition comes from twin and family studies, although susceptibility genes have not yet been identified. A whole-genome screen for linkage, using 83 sib pairs with autism, has been completed, and 119 markers have been genotyped in 13 candidate regions in a further 69 sib pairs. The addition of new families and markers provides further support for previous reports of linkages on chromosomes 7q and 16p. Two new regions of linkage have also been identified on chromosomes 2q and 17q. The most significant finding was a multipoint maximum LOD score (MLS) of 3.74 at marker D2S2188 on chromosome 2; this MLS increased to 4.80 when only sib pairs fulfilling strict diagnostic criteria were included. The susceptibility region on chromosome 7 was the next most significant, generating a multipoint MLS of 3.20 at marker D7S477. Chromosome 16 generated a multipoint MLS of 2.93 at D16S3102, whereas chromosome 17 generated a multipoint MLS of 2.34 at HTTINT2. With the addition of new families, there was no increased allele sharing at a number of other loci originally showing some evidence of linkage. These results support the continuing collection of multiplex sib-pair families to identify autism-susceptibility genes.
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“There have been numerous proposals to resolve ADI-R and ADOS discordance or relax ADI-R criteria to include the broader spectrum of ASD in addition to the formerly defined Autistic Disorder (IMGSAC 2001; Risi et al. 2006; Sung et al. 2005).”
From Using standardized diagnostic instruments to classify children with autism in the study to explore early development (2015) · cites this paper as IMGSAC 2001
In the citing paper
“A genome-wide study of whole-blood 5-HT as a quantitative trait demonstrated associations with Slc6a4 [49]”
From Serotonin as a link between the gut-brain-microbiome axis in autism spectrum disorders (2018) · cites this paper as [49]
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Metadata
- Authors
- *
- Corresponding author
- *
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2001-09
- Volume
- 69
- Issue
- 3
- Pages
- 570-581
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1235486
- OpenAlex
- W2290802694
- Cited by
- 453
- References
- 72
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 3 · 2023: 3 · 2022: 3 · 2021: 4 · 2020: 5 · 2019: 6 · 2018: 7 · 2017: 5 · 2016: 11 · 2015: 16 · 2014: 12 · 2013: 25 · 2012: 15
- FWCI
- 17.84
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Explorer (The University of Manchester) (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Funders
- Fondazione Telethon (E.1007)
- Natur og Univers, Det Frie Forskningsråd (9802210)
- National Institutes of Health (MO1 RR06022, K05 MH01196, K02 MH01389)
- Wellcome Trust
- National Institute of Child Health and Human Development (5-P01-HD-35482)
- Medical Research Council
- Deutsche Forschungsgemeinschaft
- Sundhed og Sygdom, Det Frie Forskningsråd
- Conseil Régional Midi-Pyrénées
- 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, susceptibility genes, sib-pair analysis, chromosome 2q, chromosome 7q, chromosome 16p, chromosome 17q, allele sharing, candidate regions
- MeSH terms
- Alleles, Autistic Disorder, Chromosomes, Human, Pair 16, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 7, Genetic Testing, Humans, Molecular Sequence Data, Genetic Predisposition to Disease
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