Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors
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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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The most common of these variants, SERT Ala56, is associated with both rigid-compulsive behavior and sensory aversion.
“The most common of these variants, SERT Ala56, was found to be associated with both rigid-compulsive behavior and sensory aversion [53, 54].”
From Serotonin as a link between the gut-brain-microbiome axis in autism spectrum disorders (2018) · cites this paper as [53]
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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.
- 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)
- 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
- 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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