Cited by 392Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersNeurotransmitter Receptor Influence on Behavior

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Allelic Heterogeneity at the Serotonin Transporter Locus (SLC6A4) Confers Susceptibility to Autism and Rigid-Compulsive Behaviors

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Sutcliffe, James S., Delahanty, Ryan J., Prasad, Harish C., McCauley, Jacob L., Han, Qiao, Jiang, Lan, Li, Chun, Folstein, Susan E., Blakely, Randy D.·2005·The American Journal of Human Genetics

DOI 10.1086/432648PMC PMC1224529

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Abstract

Autism is a spectrum of neurodevelopmental disorders with a primarily genetic etiology exhibiting deficits in (1) development of language and (2) social relationships and (3) patterns of repetitive, restricted behaviors or interests and resistance to change. Elevated platelet serotonin (5-HT) in 20%-25% of cases and efficacy of selective 5-HT reuptake inhibitors (SSRIs) in treating anxiety, depression, and repetitive behaviors points to the 5-HT transporter (5-HTT; SERT) as a strong candidate gene. Association studies involving the functional insertion/deletion polymorphism in the promoter (5-HTTLPR) and a polymorphism in intron 2 are inconclusive, possibly because of phenotypic heterogeneity. Nonetheless, mounting evidence for genetic linkage of autism to the chromosome 17q11.2 region that harbors the SERT locus (SLC6A4) supports a genetic effect at or near this gene. We confirm recent reports of sex-biased genetic effects in 17q by showing highly significant linkage driven by families with only affected males. Association with common alleles fails to explain observed linkage; therefore, we hypothesized that preferential transmission of multiple alleles does explain it. From 120 families, most contributing to linkage at 17q11.2, we found four coding substitutions at highly conserved positions and 15 other variants in 5' noncoding and other intronic regions transmitted in families exhibiting increased rigid-compulsive behaviors. In the aggregate, these variants show significant linkage to and association with autism. Our data provide strong support for a collection of multiple, often rare, alleles at SLC6A4 as imposing risk of autism.

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Lesch, K.-P., Bengel, D., Heils, A., Sabol, S. Z., Greenberg, B. D., Petri, S., Benjamin, J., Müller, C. R., Hamer, D. H., & Murphy, D. L. (1996) · Science · doi:10.1126/science.274.5292.1527 · Cited by 5,162
A high-resolution recombination map of the human genome
Kong, A., Gudbjartsson, D. F., Sainz, J., Jonsdottir, G. M., Gudjonsson, S. A., Richardsson, B., Sigurdardottir, S. L., Barnard, J., Hallbeck, B., Másson, G., et al. (2002) · Nature Genetics · doi:10.1038/ng917 · Cited by 1,750
Characterization of single-nucleotide polymorphisms in coding regions of human genes
Cargill, M., Altshuler, D., Ireland, J., Sklar, P., Ardlie, K., Patil, N., Lane, C. R., Lim, E. P., Kalyanaraman, N., Nemesh, J., et al. (1999) · Nature Genetics · doi:10.1038/10290 · Cited by 1,547
Prevalence of Autism in a US Metropolitan Area
Yeargin-Allsopp, M., Rice, C., Karapurkar, T., Doernberg, N., Boyle, C., & Murphy, C. (2003) · JAMA · doi:10.1001/jama.289.1.49 · Cited by 1,248
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Chakrabarti, S. (2001) · JAMA · doi:10.1001/jama.285.24.3093 · Cited by 1,132
PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
Nickerson, D. A. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.14.2745 · Cited by 929
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(1996) · PubMed Central · Cited by 901
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den Dunnen, J., & Antonarakis, S. E. (2001) · Human Genetics · doi:10.1007/s004390100505 · Cited by 899
Allegro, a new computer program for multipoint linkage analysis
Gudbjartsson, D. F., Jónasson, K., Frigge, M. L., & Kong, A. (2000) · Nature Genetics · doi:10.1038/75514 · Cited by 785

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Authors: Sutcliffe, J. S., Delahanty, R. J., Prasad, H. C., McCauley, J. L., Han, Q., Jiang, L., Li, C., Folstein, S. E., & Blakely, R. D.
Affiliations: Vanderbilt University (US)
Johns Hopkins University (US)
Corresponding author: Sutcliffe, James S.
ORCID: Sutcliffe, James S.
McCauley, Jacob L.
Jiang, Lan
Li, Chun
Blakely, Randy D.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2005-08
Volume: 77
Issue: 2
Pages: 265-279
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/432648
PMC: PMC1224529
OpenAlex: W2136328934
Cited by: 392
References: 78
Citations by year: 2026: 4 · 2025: 7 · 2024: 10 · 2023: 13 · 2022: 6 · 2021: 17 · 2020: 15 · 2019: 10 · 2018: 15 · 2017: 16 · 2016: 18 · 2015: 16 · 2014: 20 · 2013: 22 · 2012: 27
FWCI: 18.62
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 2909 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
Vanderbilt Kennedy Center, Vanderbilt University Medical Center
National Institute of Mental Health (R01MH061009, MH 61009, MH 64547, MH 55135, R01MH064547)
National Institute on Drug Abuse (DA-07390, R01DA007390)
National Center for Research Resources (M01RR000095, M01-RR-00095)
NIH Clinical Center
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
Keywords: autism spectrum disorder, serotonin transporter, allelic heterogeneity, 5-HTTLPR, chromosome 17q11.2, genetic linkage, rare alleles, candidate genes, platelet serotonin, 5-HT reuptake inhibitors
MeSH terms: Alanine, Alleles, Autistic Disorder, Blood Platelets, Chromosomes, Human, Pair 17, Compulsive Behavior, Exons, Family Health, Female, Genetic Markers, Glycine, Humans, Introns, Genetic Linkage, Male, Membrane Glycoproteins, Models, Genetic, Nerve Tissue Proteins, Pedigree, Phenotype, Polymorphism, Genetic, Risk, Serotonin, Time Factors, Linkage Disequilibrium, Gene Deletion, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Membrane Transport Proteins, Serotonin Plasma Membrane Transport Proteins

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Allelic Heterogeneity at the Serotonin Transporter Locus (SLC6A4) Confers Susceptibility to Autism and Rigid-Compulsive Behaviors

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