rs2251177
This is a synonymous variant in the DRD3 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶The Dopamine D3 Receptor Gene and Posttraumatic Stress DisorderAssociationN=1,092Erika J. Wolf et al.(2014)· Journal of Traumatic Stress
This candidate gene study identified four SNPs in the DRD3 (dopamine D3 receptor) gene associated with reduced risk for posttraumatic stress disorder (PTSD) in a discovery sample of 491 white non-Hispanic trauma-exposed veterans and partners (rs2134655, rs201252087, rs4646996, and rs9868039; odds ratios 0.59-0.69; corrected p-values 0.005-0.049). In a replication sample of 601 trauma-exposed African Americans, rs2251177, located 149 bp from the top discovery SNP, showed nominal association with PTSD in men (OR=0.32, uncorrected p=0.01). The protective alleles suggest DRD3 dysfunction may mediate PTSD through effects on executive functioning and emotional reactivity.
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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