ArticleAmerican journal of human genetics2005
Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors.
Article in American journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 177 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
177 citing papers in PubMed, 1 synthesis or guideline pooled it, 389 citations in OpenAlex.
- A systematic review of common genetic variation and biological pathways in autism spectrum disorder.BMC neuroscience · 2021Pooled it
- Network analysis of serotonin CNVs shows biological convergence from genetic heterogeneity and discriminates between autism and developmental delay.Scientific reports · 2026Article
- The Role of Serotonin in Brain Development: From Molecular Pathways to Neurodevelopmental Risk.Cellular and molecular neurobiology · 2026Review
- The effect of human-specific genetic variants on neuronal spinogenesis.Frontiers in genetics · 2026Review
- Review: Dopamine, Serotonin, and the Translational Neuroscience of Aggression in Autism Spectrum Disorder.JAACAP open · 2025Review
- Molecular Pathways, Neural Circuits and Emerging Therapies for Self-Injurious Behaviour.International journal of molecular sciences · 2025Review
- Hereditary Patterns and Genetic Associations in Obsessive-Compulsive Disorder (OCD): Neuropsychiatric Insights, Genetic Influences, and Treatment Perspectives.Current gene therapy · 2025Review
- DNA Sequence Variations Affecting Serotonin Transporter Transcriptional Regulation and Activity: Do They Impact Alcohol Addiction?International journal of molecular sciences · 2024Article
- Contribution of the serotonergic system to developmental brain abnormalities in autism spectrum disorder.Autism research : official journal of the International Society for Autism Research · 2024Review
- The Importance of Large-Scale Genomic Studies to Unravel Genetic Risk Factors for Autism.International journal of molecular sciences · 2024Review
- Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance.Nature reviews. Gastroenterology & hepatology · 2024Review
- Ligand coupling mechanism of the human serotonin transporter differentiates substrates from inhibitors.Nature communications · 2024Article
- Functional and pathological consequences of being fast on the uptake: Protein kinase G and p38α MAPK regulation of serotonin transporters.Current research in physiology · 2024Review
- Serotonergic Control of Gastrointestinal Development, Motility, and Inflammation.Comprehensive Physiology · 2023Article
- The enteric nervous system deficits in autism spectrum disorder.Frontiers in neuroscience · 2023Review
- Toward manipulating serotonin signaling via the microbiota-gut-brain axis.Current opinion in biotechnology · 2022Review
- Serotonin Transporter Ala276 Mouse: Novel Model to Assess the Neurochemical and Behavioral Impact of Thr276 Phosphorylation In Vivo.Neurochemical research · 2022Review
- Exploring the Structural and Functional Effects of Nonsynonymous SNPs in the Human Serotonin Transporter Gene ThroughBioinformatics and biology insights · 2022Article
- Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits.Pharmacology & therapeutics · 2021Review
- The Molecular Basis of Alcohol Use Disorder (AUD). Genetics, Epigenetics, and Nutrition in AUD: An Amazing Triangle.International journal of molecular sciences · 2021Review
117 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
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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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.