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rs6280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) better response to olanzapine
(C;T) 0 normal
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome3
Position114171968
GeneDRD3
is asnp
is mentioned by
dbSNPrs6280
ebirs6280
HLIrs6280
Exacrs6280
Varsomers6280
Maprs6280
PheGenIrs6280
hapmaprs6280
1000 genomesrs6280
hgdprs6280
ensemblrs6280
gopubmedrs6280
geneviewrs6280
scholarrs6280
googlers6280
pharmgkbrs6280
gwascentralrs6280
openSNPrs6280
23andMers6280
23andMe allrs6280
SNP Nexus

SNPshotrs6280
SNPdbers6280
MSV3drs6280
GWAS Ctlgrs6280
GMAF0.4518
Max Magnitude0
? (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 2186374OA-icon.png] 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





OMIM126451
Desc
Variant0001
Relatedalso
[PMID 21491142OA-icon.png] 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
Variation info
Gene DRD3
CLNDBN Schizophrenia, susceptibility to Essential tremor, susceptibility to
Reversed 0
HGVS NC_000003.11:g.113890815C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018257.2, RCV000018258.2,



[PMID 16380908OA-icon.png] 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 17466074OA-icon.png] Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study.


[PMID 17630406OA-icon.png] Dopamine genes and schizophrenia: case closed or evidence pending?


[PMID 18366720OA-icon.png] Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.


[PMID 18593715OA-icon.png] Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.


[PMID 18603647OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


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


[PMID 19207358OA-icon.png] 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 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19604093OA-icon.png] Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.


[PMID 19669131OA-icon.png] Clinical and pharmacogenetic determinants for the discontinuation of non-ergoline dopamine agonists in Parkinson's disease.


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


[PMID 20565774OA-icon.png] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.


[PMID 21162693OA-icon.png] Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.


[PMID 21595009] Converging evidence implicates the dopamine D3 receptor gene in vulnerability to schizophrenia.


[PMID 21663922OA-icon.png] Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium.


GET Evidence
DRD3-G9S
aa_change Gly9Ser
aa_change_short G9S
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.533296
summary Dopamine agonist for the D3 receptor - increases receptor affinity for dopamine by 4-5 times. So a gain-of-function mutation that could have positive or negative effects depending on the person's brain.



[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.