From SNPedia
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
, 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 19358223] The DRD3 rs6280 polymorphism and prevalence of tardive dyskinesia: A meta-analysis.
| PharmGKB | PA165111549 |
| Name | DRD3:Ser9Gly |
| 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 |
| Gene | DRD3 |
| Featue | |
| Evidence | PubMed ID:20029384 |
| Drugs | clozapine |
| Diseases | Schizophrenia |
| Curation Level | Curated |
[PMID 20236178] Dopamine receptor 3(DRD3) polymorphism and risk for migraine
| PharmGKB | PA162316713 |
| Name | DRD3: 9 Ser>Gly |
| Annotation | A study on 88 olanzapine-treated patients with schizophrenia found that the Gly/gly genotype was significantly associated with greater positive symptom improvement. |
| Gene | DRD3 |
| Featue | |
| Evidence | PubMed ID:18320559 |
| Drugs | olanzapine |
| Diseases | Schizophrenia |
| Curation Level | Curated |
| PharmGKB | PA164807597 |
| Name | DRD3: Ser9Gly |
| 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. |
| Gene | DRD3 |
| Featue | |
| Evidence | PubMed ID:19396436 |
| Drugs | pramipexole |
| Diseases | Parkinson Disease |
| Curation Level | Curated |
| PharmGKB | PA165111370 |
| Name | DRD3 Ser9Gly, DRD3 rs6280 (c.25T>C, p.S9G), DRD3:Ser9Gly |
| 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 |
| Gene | DRD3 |
| Featue | |
| Evidence | PubMed ID:19997080 |
| Drugs | risperidone |
| Diseases | Autistic Disorder |
| Curation Level | Curated |
| PharmGKB | PA165110867 |
| Name | DRD3: Gly9Ser |
| 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. |
| Gene | DRD3 |
| Featue | |
| Evidence | PubMed ID:16809426 |
| Drugs | |
| Diseases | Essential Tremor |
| Curation Level | Curated |
[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
