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From SNPedia

Geno Mag Summary
(C;C) 0 1.6x higher schizophrenia risk
(C;T) 1.4x higher schizophrenia risk
(T;T) 2 normal schizophrenia risk, learns NoGo faster
ReferenceGRCh38 38.1/142
is asnp
is mentioned by
dbSNP (classic)rs6277
1000 genomesrs6277
GWAS Ctlgrs6277
Max Magnitude2
? (C;C) (C;T) (T;T) 28

rs6277 (957C>T, Pro319Pro) is one of several SNPs in the dopamine receptor DRD2 gene.

In a study of 300+ Russian patients with schizophrenia, the rs6277(C) allele was associated with higher risk. From a pooled meta-study (total of 4 other reports plus this one) the allelic odds ratio is 1.42 (CI: 1.26-1.61, p<0.00005), and the genotypic odds ratio for the (C;C) genotype was 1.6 (CI: 1.32-1.95, p<0.00005).[PMID 18255274]

Note that rs6275 and rs6277 are only 18bp apart, hence their very tight linkage (r2=1).

gs278 reflects a gene-gene interaction between this SNP and a NR3A SNP, rs10989591, in which older adults with a particular combination of genotypes at these two (independent) loci are reported to exhibit better episodic memory.

[PMID 18833581] C allele associated significantly (p = 0.021) with post-traumatic stress disorder in a sample of (assumedly Australian) 127 war veterans w/ 228 controls

23andMe blog people with two As at rs6277(T;T) were better at NoGo learning.

[pharmgkb] T allele associated with decrease in mRNA levels

[PMID 19373123] Genetic variants altering dopamine D2 receptor expression or function modulate the risk of opiate addiction and the dosage requirements of methadone substitution

[PMID 20046399OA-icon.png] Genetic polymorphisms in dopamine- and serotonin-related genes and treatment responses to risperidone and perospirone

[PMID 19512960] Genetic diagnostics of functional variants of the human dopamine D2 receptor gene

[PMID 20421849] Habituation in prepulse inhibition is affected by a polymorphism on the NMDA receptor 2B subunit gene (GRIN2B)

[PMID 26664790OA-icon.png] The ANKK1/DRD2 locus is a genomic substrate for affective priming and recognition of angry faces

[PMID 21861710] A Novel DRD2 Single-Nucleotide Polymorphism Associated with Schizophrenia Predicts Age of Onset: HapMap Tag-Single-Nucleotide Polymorphism Analysis

[PMID 22745721OA-icon.png] Cannabis-Dependence Risk Relates to Synergism between Neuroticism and Proenkephalin SNPs Associated with Amygdala Gene Expression: Case-Control Study

[PMID 16848906OA-icon.png] Genetic polymorphisms in monoamine neurotransmitter systems show only weak association with acute post-surgical pain in humans.

[PMID 16867246] Association of DRD2 polymorphisms and chlorpromazine-induced extrapyramidal syndrome in Chinese schizophrenic patients.

[PMID 17135598] No evidence for a major role of polymorphisms during bupropion treatment.

[PMID 18077373OA-icon.png] Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory.

[PMID 18332877OA-icon.png] Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan.

[PMID 18563706OA-icon.png] The impact of genetic variation in DRD2 and SLC6A3 on smoking cessation in a cohort of participants 1 year after enrollment in a lung cancer screening study.

[PMID 18690117OA-icon.png] Gene and gene by sex associations with initial sensitivity to nicotine in nonsmokers.

[PMID 18698231OA-icon.png] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.

[PMID 18929622] Dopamine 2 receptor C957T and catechol-o-methyltransferase Val158Met polymorphisms are associated with treatment response in electroconvulsive therapy.

[PMID 19065655OA-icon.png] Dopamine D2 receptor polymorphisms and adenoma recurrence in the Polyp Prevention Trial.

[PMID 19158809] Case-control association study of 59 candidate genes reveals the DRD2 SNP rs6277 (C957T) as the only susceptibility factor for schizophrenia in the Bulgarian population.

[PMID 19197363OA-icon.png] A genome-wide investigation of SNPs and CNVs in schizophrenia.

[PMID 19258022OA-icon.png] Now or Later? An fMRI study of the effects of endogenous opioid blockade on a decision-making network.

[PMID 19285111] C957T polymorphism of the human dopamine D2 receptor gene predicts extrastriatal dopamine receptor availability in vivo.

[PMID 19393722OA-icon.png] Genetic contributions to avoidance-based decisions: striatal D2 receptor polymorphisms.

[PMID 19470168OA-icon.png] NPAS2 and PER2 are linked to risk factors of the metabolic syndrome.

[PMID 19590515] Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese.

[PMID 19693267OA-icon.png] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.

[PMID 19911060OA-icon.png] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.

[PMID 19913597] An association study of DRD2 gene polymorphisms with schizophrenia in a Chinese Han population.

[PMID 20179754OA-icon.png] Genetically determined measures of striatal D2 signaling predict prefrontal activity during working memory performance.

[PMID 20180986OA-icon.png] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.

[PMID 20191112OA-icon.png] The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives.

[PMID 20205808OA-icon.png] Association between dopaminergic polymorphisms and borderline personality traits among at-risk young adults and psychiatric inpatients.

[PMID 20567893] Association between polymorphisms of the dopamine receptor D2 and catechol-o-methyl transferase genes and cognitive function.

[PMID 20615259OA-icon.png] A polymorphism in the dysbindin gene (DTNBP1) associated with multiple psychiatric disorders including schizophrenia.

[PMID 21130611] Evidence for the modality independence of the genetic epistasis between the dopaminergic and cholinergic system on working memory capacity.

[PMID 21172166OA-icon.png] Pharmacogenetics of antidepressant response.

[PMID 21508242OA-icon.png] Dopaminergic genes predict individual differences in susceptibility to confirmation bias.

[PMID 22382052] A DRD2 and ANKK1 haplotype is associated with nicotine dependence.

[PMID 22487365] C957T polymorphism of the dopamine D2 receptor gene is associated with motor learning and heart rate.

[PMID 22574669] Dopamine receptors D1 and D2 are related to observed maternal behavior.

[PMID 22582185] DRD2 C957T and TaqIA Genotyping Reveals Gender Effects and Unique Low-Risk and High-Risk Genotypes in Alcohol Dependence.

[PMID 22937132OA-icon.png] The Protein Kinase KIS Impacts Gene Expression during Development and Fear Conditioning in Adult Mice

[PMID 24018103] Association study of the vesicular monoamine transporter gene SLC18A2 with tardive dyskinesia

[PMID 24407958] Risky alcohol consumption in young people is associated with the fatty acid amide hydrolase gene polymorphism C385A and affective rating of drug pictures

[PMID 22579533] Binge eating disorder and the dopamine D2 receptor: genotypes and sub-phenotypes.

[PMID 22939506] Aging magnifies the effects of dopamine transporter and D2 receptor genes on backward serial memory.

[PMID 22947540] The dopamine D2 receptor gene DRD2 and the nicotinic acetylcholine receptor gene CHRNA4 interact on striatal gray matter volume: evidence from a genetic imaging study.

[PMID 23376770] The genetic impact (C957T-DRD2) on inhibitory control is magnified by aging.

[PMID 25647695] Modulation of nicotine effects on selective attention by DRD2 and CHRNA4 gene polymorphisms

[PMID 26307064OA-icon.png] DRD2 and DRD4 genes related to cognitive deficits in HIV-infected adults who abuse alcohol

[PMID 26370377] Recurrent miscarriage is associated with the dopamine receptor (DRD2) genotype

[PMID 26445370OA-icon.png] Genetic Effects on Longitudinal Changes from Healthy to Adverse Weight and Metabolic Status - The HUNT Study

Risk Rs6277(T;T)
Alt Rs6277(T;T)
Reference Rs6277(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene DRD2
CLNDBN not specified
Reversed 1
HGVS NC_000011.9:g.113283459G>A
CLNACC RCV000179786.2,

[PMID 27254804OA-icon.png] Dopamine 2 Receptor Genes Are Associated with Raised Blood Glucose in Schizophrenia.