rs1985242

This is a intron variant variant in the HTR3A gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Research that mentions this SNP (1)

Association and interaction analyses of 5-HT3 receptor and serotonin transporter genes with alcohol, cocaine, and nicotine dependence using the SAGE data
AssociationN=3,564Jiekun Yang et al.(2014)· Human Genetics

This association study examined 3,564 subjects from the SAGE dataset (2,428 European-American, 1,136 African-American) to determine associations between 88 variants in HTR3A, HTR3B, and SLC6A4 genes and alcohol, cocaine, and nicotine dependence. Individual SNP analysis found rs2066713 in SLC6A4 significantly associated with FTND in African-Americans (beta = -1.39, P = 1.6E-04). Haplotype analysis identified major haplotypes in HTR3B and HTR3A significantly associated with alcohol dependence and FTND. GMDR interaction analysis revealed significant SNP-by-SNP interactions within these three genes affecting multiple addictive phenotypes.

Traits studied:Alcohol DependenceCocaine DependenceFagerström Test for Nicotine DependenceNicotine Dependence

About HTR3A

The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit A of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. It appears that the heteromeric combination of A and B subunits is necessary to provide the full functional features of this receptor, since either subunit alone results in receptors with very low conductance and response amplitude. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all HTR3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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