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rs6277

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome11
Position113412737
GeneDRD2
is asnp
is mentioned by
dbSNPrs6277
ebirs6277
HLIrs6277
Exacrs6277
Varsomers6277
Maprs6277
PheGenIrs6277
hapmaprs6277
1000 genomesrs6277
hgdprs6277
ensemblrs6277
gopubmedrs6277
geneviewrs6277
scholarrs6277
googlers6277
pharmgkbrs6277
gwascentralrs6277
openSNPrs6277
23andMers6277
23andMe allrs6277
SNP Nexus

SNPshotrs6277
SNPdbers6277
MSV3drs6277
GWAS Ctlgrs6277
GMAF0.2732
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

Neighborrs6275
Distance18
[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 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


GET Evidence
rs6277
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.405373
summary



[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


ClinVar
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
CLNSRC
CLNACC RCV000179786.2,



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