{{Rsnum
|rsid=6280
|Gene=DRD3
|Chromosome=3
|position=114171968
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4518
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=DRD3
}}{{ 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|OA=1
}} 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 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
|OA=1
}}

{{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=0x05036800000017051f110101
|GENEINFO=DRD3:1814
|GENE_NAME=DRD3
|GENE_ID=1814
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.113890815C>T
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;S3D;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.4518; 0.5482
|CLNACC=RCV000018257.1; RCV000018258.1
|CLNDBN=Schizophrenia, susceptibility to; Essential tremor, susceptibility to
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=126451.0001
|COMMON=1
|Disease=Schizophrenia; Essential tremor
}}

{{PMID Auto
|PMID=16380908
|Title=Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder.
|OA=1
}}

{{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.
|OA=1
}}

{{PMID Auto
|PMID=17630406
|Title=Dopamine genes and schizophrenia: case closed or evidence pending?
|OA=1
}}

{{PMID Auto
|PMID=18366720
|Title=Association of dopaminergic pathway gene polymorphisms with chronic renal insufficiency among Asian Indians with type-2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18593715
|Title=Nicotinic acetylcholine receptor beta2 subunit gene implicated in a systems-based candidate gene study of smoking cessation.
|OA=1
}}

{{PMID Auto
|PMID=18603647
|Title=Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.
|OA=1
}}

{{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.
|OA=1
}}

{{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.
|OA=1
}}

{{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.
|OA=1
}}

{{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.
|OA=1
}}

{{PMID Auto
|PMID=19604093
|Title=Genetic polymorphisms, their allele combinations and IFN-beta treatment response in Irish multiple sclerosis patients.
|OA=1
}}

{{PMID Auto
|PMID=19669131
|Title=Clinical and pharmacogenetic determinants for the discontinuation of non-ergoline dopamine agonists in Parkinson's disease.
|OA=1
}}

{{PMID Auto
|PMID=19693267
|Title=Financial and psychological risk attitudes associated with two single nucleotide polymorphisms in the nicotine receptor (CHRNA4) gene.
|OA=1
}}

{{PMID Auto
|PMID=20565774
|Title=Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
|OA=1
}}

{{PMID Auto
|PMID=21162693
|Title=Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.
|OA=1
}}

{{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.
|OA=1
}}

{{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.
}}

{{PMID Auto
|PMID=24398431
|Title=DRD3 variation associates with early-onset heroin dependence, but not specific personality traits
}}

{{PMID Auto
|PMID=22940547
|Title=Preliminary evidence for association between schizophrenia and polymorphisms in the regulatory Regions of the ADRA2A, DRD3 and SNAP-25 Genes.
}}

{{PMID Auto
|PMID=23312624
|Title=Dopamine receptor D3 (DRD3) gene rs6280 variant and risk for restless legs syndrome.
}}

{{PMID Auto
|PMID=24776816
|Title=DRD3 Gene rs6280 Polymorphism May Be Associated with Alcohol Dependence Overall and with Lesch Type I Alcohol Dependence in Koreans
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}