rs3732783
This is a synonymous variant in the DRD3 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
DRD3-related disorder; Tremor, hereditary essential, 1 (ETM1)
View on ClinVar →▶Research that mentions this SNP (1)
▶A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophreniaMeta-analysisN=1,872Javier Costas et al.(2009)· Human Genetics
This meta-analysis of 794 schizophrenia cases and 1,078 controls from three European populations identified a common protective DRD3 haplotype against schizophrenia (Mantel-Haenszel χ² p-value = 0.00227; OR = 0.79, 95% CI 0.68-0.92). The protective haplotype has reached high frequency in non-African populations through positive selection acting on the non-synonymous SNP rs6280 (Ser9Gly), suggesting natural selection influences susceptibility allele frequencies in psychiatric disorders.
About DRD3
This gene encodes the D3 subtype of the five (D1-D5) dopamine receptors. The activity of the D3 subtype receptor is mediated by G proteins which inhibit adenylyl cyclase. This receptor is localized to the limbic areas of the brain, which are associated with cognitive, emotional, and endocrine functions. Genetic variation in this gene may be associated with susceptibility to hereditary essential tremor 1. Alternative splicing of this gene results in transcript variants encoding different isoforms, although some variants may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]
View all DRD3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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