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{{ population diversity | geno1=(C;C) | geno2=(C;T) | geno3=(T;T) | CEU | 15.0 | 40.7 | 44.2 | HCB | 12.5 | 45.6 | 41.9 | JPT | 6.2 | 47.8 | 46.0 | YRI | 74.1 | 23.8 | 2.0 | ASW | 56.1 | 36.8 | 7.0 | CHB | 12.5 | 45.6 | 41.9 | CHD | 13.0 | 36.1 | 50.9 | GIH | 19.8 | 50.5 | 29.7 | LWK | 69.1 | 30.0 | 0.9 | MEX | 12.1 | 50.0 | 37.9 | MKK | 45.8 | 44.5 | 9.7 | TSI | 15.7 | 41.2 | 43.1 | HapMapRevision=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 Auto |PMID=19358223 |Title=The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: A meta-analysis. }} {{PharmGKB |RSID=rs6280 |Name_s=DRD3:Ser9Gly |Gene_s=DRD3 |Feature= |Evidence=PubMed ID:20029384 |Annotation=Risk or phenotype-associated allele: Phenotype: This meta-analysis showed no difference in clozipine response between the Ser and Gly allele. Study size: 758 Study population/ethnicity: Patients with Schizophrenia Significance metric(s): OR = 0.82, 95% confidence interval (CI): 0.65-1.04; p = 0.1 Type of association: PD |Drugs=clozapine |Drug Classes= |Diseases=Schizophrenia |Curation Level=Curated |PharmGKB Accession ID=PA165111549 }} {{PMID Auto |PMID=20236178 |Title=Dopamine receptor 3(DRD3) polymorphism and risk for migraine }} {{PharmGKB |RSID=rs6280 |Name_s=DRD3: 9 Ser>Gly |Gene_s=DRD3 |Feature= |Evidence=PubMed ID:18320559 |Annotation=A study on 88 olanzapine-treated patients with schizophrenia found that the Gly/gly genotype was significantly associated with greater positive symptom improvement. |Drugs=olanzapine |Drug Classes= |Diseases=Schizophrenia |Curation Level=Curated |PharmGKB Accession ID=PA162316713 }} {{PharmGKB |RSID=rs6280 |Name_s=DRD3: Ser9Gly |Gene_s=DRD3 |Feature= |Evidence=PubMed ID:19396436 |Annotation=This variant in the DRD3 gene was significantly associated with the therapeutic efficacy of pramipexole in Chinese patients with Parkinson's disease in a study of 30 patients. |Drugs=pramipexole |Drug Classes= |Diseases=Parkinson Disease |Curation Level=Curated |PharmGKB Accession ID=PA164807597 }} {{PharmGKB |RSID=rs6280 |Name_s=DRD3 Ser9Gly, DRD3 rs6280 (c.25T>C, p.S9G), DRD3:Ser9Gly |Gene_s=DRD3 |Feature= |Evidence=PubMed ID:19997080 |Annotation=Risk or phenotype-associated allele: C Phenotype: Carriers of the C variant (Gly) of DRD3:Ser9Gly had greater reductions in Autism Treatment Evaluation Checklist (ATEC) scores, indicating improved symptoms and response to risperidone, than TT homozygotes. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.012 Type of association: PD |Drugs=risperidone |Drug Classes= |Diseases=Autistic Disorder |Curation Level=Curated |PharmGKB Accession ID=PA165111370 }} {{PharmGKB |RSID=rs6280 |Name_s=DRD3: Gly9Ser |Gene_s=DRD3 |Feature= |Evidence=PubMed ID:16809426 |Annotation=Risk or phenotype-associated allele: C. Phenotype: A study comparing 276 patients with essential tremor and 184 normal controls confirmed the association of the Gly-9 variant in the DRD-3 gene with risk and age-at-onset of essential tremor. Study size: 276. Study population/ethnicity: French. |Drugs= |Drug Classes= |Diseases=Essential Tremor |Curation Level=Curated |PharmGKB Accession ID=PA165110867 }} {{omim |id=126451 |rsnum=6280 |variant=0001 }} {{PMID Auto |PMID=21491142 |Title=Dopamine receptor D3 genetic polymorphism (rs6280TC) is associated with rates of cognitive impairment in methamphetamine-dependent men with HIV: preliminary findings }} {{PMID Auto |PMID=22569179 |Title=Rs1076560, a functional variant of the dopamine D2 receptor gene, confers risk of schizophrenia in Han Chinese }} {{ClinVar |rsid=6280 |Reversed=0 |FwdREF=C |FwdALT=T |REF=C |ALT=T |RSPOS=113890815 |CHROM=3 |GMAF=0.4515 |dbSNPBuildID=52 |SSR=0 |SAO=1 |VP=050368000a0507051f110101 |GENEINFO=DRD3:1814 |GENE_NAME=DRD3 |GENE_ID=1814 |WGT=1 |VC=SNV |CLNALLE=1 |CLNHGVS=NC_000003.11:g.113890815C>T |CLNORIGIN=1 |CLNSIG=255 |Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM;GCF }} {{PMID Auto |PMID=16380908 |Title=Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder. }} {{PMID Auto |PMID=16893532 |Title=Novel, replicated associations between dopamine D3 receptor gene polymorphisms and schizophrenia in two independent samples. }} {{PMID Auto |PMID=17466074 |Title=Genetic polymorphisms in dopamine-related genes and smoking cessation in women: a prospective cohort study. }} {{PMID Auto |PMID=17630406 |Title=Dopamine genes and schizophrenia: case closed or evidence pending? }} {{PMID Auto |PMID=18366720 |Title=Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes. }} {{PMID Auto |PMID=18593715 |Title=Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation. }} {{PMID Auto |PMID=18603647 |Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. }} {{PMID Auto |PMID=18698231 |Title=Polymorphisms affecting gene transcription and mRNA processing in pharmacogenetic candidate genes: detection through allelic expression imbalance in human target tissues. }} {{PMID Auto |PMID=18781856 |Title=Genetic underpinnings of tardive dyskinesia: passing the baton to pharmacogenetics. }} {{PMID Auto |PMID=18987889 |Title=A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia. }} {{PMID Auto |PMID=19197363 |Title=A genome-wide investigation of SNPs and CNVs in schizophrenia. }} {{PMID Auto |PMID=19207358 |Title=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 Auto |PMID=19302829 |Title=Effects of the DRD3 Ser9Gly polymorphism on aripiprazole efficacy in schizophrenic patients as modified by clinical factors. }} {{PMID Auto |PMID=19379518 |Title=Development of a fingerprinting panel using medically relevant polymorphisms. }} {{PMID Auto |PMID=19604093 |Title=Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients. }} {{PMID Auto |PMID=19669131 |Title=Clinical and pharmacogenetic determinants for the discontinuation of non-ergoline dopamine agonists in Parkinson's disease. }} {{PMID Auto |PMID=19693267 |Title=Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene. }} {{PMID Auto |PMID=20565774 |Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. }} {{PMID Auto |PMID=21162693 |Title=Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction. }} {{PMID Auto |PMID=21595009 |Title=Converging evidence implicates the dopamine D3 receptor gene in vulnerability to schizophrenia. }} {{PMID Auto |PMID=21663922 |Title=Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium. }} {{GET Evidence |gene=DRD3 |aa_change=Gly9Ser |aa_change_short=G9S |impact=pharmacogenetic |qualified_impact=Insufficiently evaluated pharmacogenetic |inheritance=unknown |quality_scores=Array |dbsnp_id=rs6280 |overall_frequency_n=5734 |overall_frequency_d=10752 |overall_frequency=0.533296 |n_genomes=38 |n_genomes_annotated=0 |n_haplomes=56 |n_articles=3 |n_articles_annotated=3 |qualityscore_in_vitro=4 |qualitycomment_in_vitro=Y |gene_in_genetests=Y |in_pharmgkb=Y |nblosum100=2 |autoscore=2 |webscore=N |n_web_uneval=10 |summary_short=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. }} {{ on chip | 23andMe v1 }} {{ on chip | Illumina Human 1M}} {{on chip | 23andMe v1}} {{on chip | 23andMe v2}} {{on chip | 23andMe v3}} {{on chip | FTDNA2}} {{on chip | FTDNA}} {{on chip | HumanOmni1Quad}} {{on chip | Illumina Human 1M}}
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