rs6277
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 113412737 |
| Gene | DRD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6277 |
| dbSNP (classic) | rs6277 |
| ClinGen | rs6277 |
| ebi | rs6277 |
| HLI | rs6277 |
| Exac | rs6277 |
| Gnomad | rs6277 |
| Varsome | rs6277 |
| LitVar | rs6277 |
| Map | rs6277 |
| PheGenI | rs6277 |
| Biobank | rs6277 |
| 1000 genomes | rs6277 |
| hgdp | rs6277 |
| ensembl | rs6277 |
| geneview | rs6277 |
| scholar | rs6277 |
| rs6277 | |
| pharmgkb | rs6277 |
| gwascentral | rs6277 |
| openSNP | rs6277 |
| 23andMe | rs6277 |
| SNPshot | rs6277 |
| SNPdbe | rs6277 |
| MSV3d | rs6277 |
| GWAS Ctlg | rs6277 |
| GMAF | 0.2732 |
| Max Magnitude | 2 |
| ? | (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 20046399
] 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 26664790] 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 22745721] Cannabis-Dependence Risk Relates to Synergism between Neuroticism and Proenkephalin SNPs Associated with Amygdala Gene Expression: Case-Control Study
[PMID 16848906] 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 18077373] Polymorphisms in human dopamine D2 receptor gene affect gene expression, splicing, and neuronal activity during working memory.
[PMID 18332877] Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan.
[PMID 18563706] 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 18690117] Gene and gene by sex associations with initial sensitivity to nicotine in nonsmokers.
[PMID 18698231] 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 19065655] 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 19197363] A genome-wide investigation of SNPs and CNVs in schizophrenia.
[PMID 19258022] 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 19393722] Genetic contributions to avoidance-based decisions: striatal D2 receptor polymorphisms.
[PMID 19470168] 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 19693267] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
[PMID 19911060] 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 20179754] Genetically determined measures of striatal D2 signaling predict prefrontal activity during working memory performance.
[PMID 20180986] CLOCK is suggested to associate with comorbid alcohol use and depressive disorders.
[PMID 20191112] The Genetics of Anorexia Nervosa: Current Findings and Future Perspectives.
[PMID 20205808] 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 20615259] 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 21172166] Pharmacogenetics of antidepressant response.
[PMID 21508242] 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 22937132] 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 26307064] 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 26445370] 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.
