rs4646996

This is a intron variant variant in the DRD3 gene.

Research that mentions this SNP (2)

The Dopamine D3 Receptor Gene and Posttraumatic Stress Disorder
AssociationN=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.

Traits studied:Posttraumatic Stress Disorder (PTSD)
Clinical and pharmacogenetic determinants for the discontinuation of non-ergoline dopamine agonists in Parkinson’s disease
AssociationN=90Arbouw ME et al.(2009)· European Journal of Clinical Pharmacology

This pharmacogenetic study examined determinants of non-ergoline dopamine agonist discontinuation in 90 Parkinson's disease patients. Non-genetic factors associated with discontinuation included apomorphine use (HR 6.26) and levodopa dosages 500-1000 mg (HR 2.31). In the genetic subgroup (n=38), the absence of a 15× DRD2 CA repeat allele was significantly associated with decreased discontinuation (HR 0.23; 95% CI 0.07-0.81), while DRD3 Msp I polymorphism showed a suggestive allele dose effect.

Traits studied:Parkinson's disease - dopamine agonist treatment discontinuation

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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