ArticleAutism research : official journal of the International Society for Autism Research2014
Family-based clinical associations and functional characterization of the serotonin 2A receptor gene (HTR2A) in autism spectrum disorder.
Article in Autism research : official journal of the International Society for Autism Research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- The 'PSILAUT' protocol: an experimental medicine study of autistic differences in the function of brain serotonin targets of psilocybin.BMC psychiatry · 2024Article
- Genetic and epigenetic analysis of the serotonin 2A receptor in the context of cocaine abuse.Epigenetics · 2022Article
- Serotonin Receptors as Therapeutic Targets for Autism Spectrum Disorder Treatment.International journal of molecular sciences · 2022Review
- Association between autism spectrum disorder and polymorphisms in genes encoding serotine and dopamine receptors.Metabolic brain disease · 2021Article
- Connection between polymorphisms inJournal of genetics · 2019Article
- Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD.Journal of developmental and physical disabilities · 2018Article
- Serotonergic gene polymorphisms (5-HTTLPR, 5HTR1A, 5HTR2A), and population differences in aggression: traditional (Hadza and Datoga) and industrial (Russians) populations compared.Journal of physiological anthropology · 2018Article
- Genetic analysis of impulsive personality traits: Examination of a priori candidates and genome-wide variation.Psychiatry research · 2018Article
- Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism.Scientific reports · 2017Article
- Neural and Genetic Correlates of the Social Sharing of Happiness.Frontiers in neuroscience · 2017Article
- Bio-collections in autism research.Molecular autism · 2017Review
- Genomic structure and expression of the human serotonin 2A receptor gene (HTR2A) locus: identification of novel HTR2A and antisense (HTR2A-AS1) exons.BMC genetics · 2016Article
- Serotonin receptor gene (HTR2A) T102C polymorphism modulates individuals' perspective taking ability and autistic-like traits.Frontiers in human neuroscience · 2015Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
The serotonin 2A receptor gene (HTR2A) harbors two functional single nucleotide polymorphisms (SNPs) that are frequent in populations of African and European descent; rs6311, which affects mRNA expression, and rs6314, which changes the amino acid sequence of the encoded protein and affects the signaling properties of the receptor. Multiple clinical associations support a role for these SNPs in cognitive and neuropsychiatric phenotypes, although studies in autism spectrum disorder (ASD) remain equivocal. Here, we tested transmission disequilibrium of rs6311 and rs6314 in a cohort of 158 ASD trios (simplex and multiplex), observing significant under-transmission of the minor "A" allele of rs6311 to offspring with ASD (permuted P = 0.0004). Consistent with our previous findings in the dorsolateral prefrontal cortex of unaffected individuals, rs6311/A decreases expression of HTR2A mRNA with an extended 5' untranslated region (UTR) in the frontopolar cortex in brain samples from 54 ASD patients and controls. Interpreting the clinical results in the context of our mRNA expression analysis, we speculate that any risk associated with rs6311 is conferred by greater expression of the long 5'UTR mRNA isoform. The current study corroborates earlier associations between rs6311 and ASD in a family study, supporting the hypothesis that rs6311 plays a modulatory role in ASD risk.
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