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Cited by 77Autism Spectrum Disorder ResearchGenetic Associations and EpidemiologyGenetics and Neurodevelopmental Disorders

A high-density SNP genome-wide linkage scan in a large autism extended pedigree

Allen-Brady, K, Miller, J, Matsunami, N, Stevens, J, Block, H, Farley, M, Krasny, L, Pingree, C +4 more·2009·Molecular Psychiatry
DOI 10.1038/mp.2008.14
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Abstract

We performed a high-density, single nucleotide polymorphism (SNP), genome-wide scan on a six-generation pedigree from Utah with seven affected males, diagnosed with autism spectrum disorder. Using a two-stage linkage design, we first performed a nonparametric analysis on the entire genome using a 10K SNP chip to identify potential regions of interest. To confirm potentially interesting regions, we eliminated SNPs in high linkage disequilibrium (LD) using a principal components analysis (PCA) method and repeated the linkage results. Three regions met genome-wide significance criteria after controlling for LD: 3q13.2-q13.31 (nonparametric linkage (NPL), 5.58), 3q26.31-q27.3 (NPL, 4.85) and 20q11.21-q13.12 (NPL, 5.56). Two regions met suggestive criteria for significance 7p14.1-p11.22 (NPL, 3.18) and 9p24.3 (NPL, 3.44). All five chromosomal regions are consistent with other published findings. Haplotype sharing results showed that five of the affected subjects shared more than a single chromosomal region of interest with other affected subjects. Although no common autism susceptibility genes were found for all seven autism cases, these results suggest that multiple genetic loci within these regions may contribute to the autism phenotype in this family, and further follow-up of these chromosomal regions is warranted.

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  • Evidence supporting a role for the genes encoding OXT and OXTR in ASD has been controversial.

    “evidence supporting a role for the genes encoding OT (OXT) and the OT receptor (OXTR) has been more controversial (Allen-Brady et al., 2009; Ebstein et al., 2009; Hovey et al., 2014; Satterstrom et al., 2020; Willsey et al., 2013; Zhang et al., 2017)”

    From Parallel social information processing circuits are differentially impacted in autism (2020) · cites this paper as Allen-Brady et al., 2009

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Authors
Allen-Brady, K., Miller, J., Matsunami, N., Stevens, J., Block, H., Farley, M., Krasny, L., Pingree, C., Lainhart, J., Leppert, M., McMahon, W. M., & Coon, H.
Affiliations
University of Utah (US)
ORCID
Venue
Molecular Psychiatry
Publisher
Springer Science and Business Media LLC
Published
2008-02-19
Volume
14
Issue
6
Pages
590-600
ISSN
  • 1359-4184 (ISSN-L)
  • 1476-5578
DOI
10.1038/mp.2008.14
OpenAlex
W2000087362
Cited by
77
References
65
Citations by year
2024: 1 · 2023: 3 · 2022: 5 · 2021: 2 · 2020: 6 · 2019: 1 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 3 · 2014: 10 · 2013: 9 · 2012: 9
FWCI
3.96
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Molecular Psychiatry (publishedVersion)
  • PubMed (publishedVersion)
Funders
  • University of Utah
  • Deutsches Krebsforschungszentrum
  • Huntsman Cancer Institute
  • National Institute of Mental Health (R01MH069359)
  • National Center for Research Resources (M01-RR 00064, M01RR000064)
  • Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD035476)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Keywords
autism spectrum disorder, genetic linkage, extended pedigrees, chromosome 3q, chromosome 20q, chromosome 7p, chromosome 9p, haplotype sharing, linkage disequilibrium, genetic susceptibility loci, nonparametric linkage
MeSH terms
Adult, Autistic Disorder, Child, Eye Proteins, Family Health, Female, Follow-Up Studies, Haplotypes, Humans, Male, Membrane Proteins, Middle Aged, Pedigree, Phenotype, Linkage Disequilibrium, Polymorphism, Single Nucleotide, Genomics, Drosophila Proteins

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