rs6280
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | better response to olanzapine | |
| (C;T) | 0 | normal |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 114171968 |
| Gene | DRD3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6280 |
| dbSNP (classic) | rs6280 |
| ClinGen | rs6280 |
| ebi | rs6280 |
| HLI | rs6280 |
| Exac | rs6280 |
| Gnomad | rs6280 |
| Varsome | rs6280 |
| LitVar | rs6280 |
| Map | rs6280 |
| PheGenI | rs6280 |
| Biobank | rs6280 |
| 1000 genomes | rs6280 |
| hgdp | rs6280 |
| ensembl | rs6280 |
| geneview | rs6280 |
| scholar | rs6280 |
| rs6280 | |
| pharmgkb | rs6280 |
| gwascentral | rs6280 |
| openSNP | rs6280 |
| 23andMe | rs6280 |
| SNPshot | rs6280 |
| SNPdbe | rs6280 |
| MSV3d | rs6280 |
| GWAS Ctlg | rs6280 |
| GMAF | 0.4518 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs6280, also known as Ser9Gly, is a SNP in the dopamine receptor D3 DRD3 gene. The rs6280(C) allele encodes a glycine, and the (T) allele encodes a serine (in dbSNP orientation).
In a study of 88 patients being treated for schizophrenia with olanzapine, those who were rs6280(C;C) homozygotes had greater positive symptom remission (endpoint rating of minimal or none on all PANSS clinical response positive items, 39.1%), as compared with (C;T) or (T;T) genotypes (13.8%; p = 0.033). [PMID 18320559]
Ser9Gly has been implicated in executive function in some studies, but the results are conflicting.
- [PMID 18351593] Gly/Gly carriers showed significantly (p = 0.002) poorer performance than Ser/Ser carriers on executive functioning tasks in a somewhat small Caucasian sample (84 patients with first-episode psychosis and 85 controls).
- [PMID 2186374
] Gly/Ser heterozygotes had 23% more preservative errors on the WCST compared to Ser/Ser homozygotes in a small (216) healthy Han Chinese sample (p = 0.009). Differences between homozygotes were not statistically significant. - [PMID 15785860] No association between WCST scores and Ser9Gly was found in 138 schizophrenic patients.
[PMID 18348205] Associated in a family association study and pooled sample of 2,037 with nicotine dependence in Americans of European descent.
[PMID 16583407] Preliminary evidence for an association between a dopamine D3 receptor gene variant and obsessive-compulsive personality disorder in patients with major depression. DRD3 polymorphism for an individual with Gly/Gly (C;C) genotype is 2.4 (P = 0.017) times more likely to be diagnosed with OCPD. Male gender was also found to be a significant predictor of OCPD diagnosis (OR = 2.82, P = 0.001). DRD3 may contribute to the development of OCPD. This association was tested using two independent groups of individuals with a history of depression, from a clinical sample (n = 149) and a family study (n = 213).
[PMID 19358223] The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: A meta-analysis.
[PMID 20236178] Dopamine receptor 3(DRD3) polymorphism and risk for migraine
[PMID 21491142
] Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of cognitive impairment in methamphetamine-dependent men with HIV: preliminary findings
[PMID 22569179] Rs1076560, a functional variant of the dopamine D2 receptor gene, confers risk of schizophrenia in Han Chinese
| ClinVar | |
|---|---|
| Risk | Rs6280(T;T) |
| Alt | Rs6280(T;T) |
| Reference | Rs6280(C;C) |
| Significance | Other |
| Disease | Schizophrenia Essential tremor Hereditary Essential Tremor |
| Variation | info |
| Gene | DRD3 |
| CLNDBN | Schizophrenia, susceptibility to Essential tremor, susceptibility to Hereditary Essential Tremor |
| Reversed | 0 |
| HGVS | NC_000003.11:g.113890815C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018257.2, RCV000018258.2, RCV000381906.1, |
[PMID 16380908] Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder.
[PMID 16893532] Novel, replicated associations between dopamine D3 receptor gene polymorphisms and schizophrenia in two independent samples.
[PMID 17466074] Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study.
[PMID 17630406] Dopamine genes and schizophrenia: case closed or evidence pending?
[PMID 18366720] Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.
[PMID 18593715] Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.
[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
[PMID 18698231] Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues.
[PMID 18781856] Genetic underpinnings of tardive dyskinesia: passing the baton to pharmacogenetics.
[PMID 18987889] A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia.
[PMID 19197363] A genome-wide investigation of SNPs and CNVs in schizophrenia.
[PMID 19207358] Further evidence for an association between the gamma-aminobutyric acid receptor A, subunit 4 genes on chromosome 4 and Fagerstrom Test for Nicotine Dependence.
[PMID 19302829] Effects of the DRD3 Ser9Gly polymorphism on aripiprazole efficacy in schizophrenic patients as modified by clinical factors.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19604093] Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.
[PMID 19669131] Clinical and pharmacogenetic determinants for the discontinuation of non-ergoline dopamine agonists in Parkinson's disease.
[PMID 19693267] Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21162693] Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.
[PMID 21595009] Converging evidence implicates the dopamine D3 receptor gene in vulnerability to schizophrenia.
[PMID 21663922] Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium.
[PMID 24398431] DRD3 variation associates with early-onset heroin dependence, but not specific personality traits
[PMID 22940547] Preliminary evidence for association between schizophrenia and polymorphisms in the regulatory Regions of the ADRA2A, DRD3 and SNAP-25 Genes.
[PMID 23312624] Dopamine receptor D3 (DRD3) gene rs6280 variant and risk for restless legs syndrome.
[PMID 24776816] DRD3 Gene rs6280 Polymorphism May Be Associated with Alcohol Dependence Overall and with Lesch Type I Alcohol Dependence in Koreans
[PMID 25660313] Meta-analysis of six genes (BDNF, DRD1, DRD3, DRD4, GRIN2B and MAOA) involved in neuroplasticity and the risk for alcohol dependence
[PMID 25698199] Association between Tourette syndrome and the dopamine D3 receptor gene rs6280
[PMID 27325396] Dopamine D3 receptor Ser9Gly variant is associated with impulse control disorders in Parkinson's disease patients.
[PMID 28451935] Single nucleotide polymorphisms in genes of dopaminergic pathways are associated with bruxism.
[PMID 28777361] [Associations between chronotype, road accidents and polymorphisms in genes linked with biological clock and dopaminergic system].
[PMID 29200860] No association between dopamine D3 receptor gene Ser9Gly polymorphism (rs6280) and risk of schizophrenia: an updated meta-analysis.
