rs324029

This variant is located in the DRD3 gene.

Research that mentions this SNP (2)

A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia
Meta-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.

Traits studied:Schizophrenia
SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families
AssociationN=364Kollins SH et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Haplotype-tagging SNP analysis in 364 individuals from 152 ADHD families identified significant associations between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596) and between reaction time variability and a SNP in the NET gene (rs3785155). These findings suggest that commission errors and reaction time variability are valid ADHD endophenotypes linked to dopaminergic and noradrenergic pathways.

Traits studied:ADHDCommission errors (Continuous Performance Task)Detectability (CPT)Hit reaction timeHit reaction time standard errorReaction time variability (Continuous Performance Task)

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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