rs1801028
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal risk |
| (C;G) | 1.4x risk for schizophrenia | |
| (G;G) | 0 | normal risk |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 113412762 |
| Gene | DRD2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801028 |
| dbSNP (classic) | rs1801028 |
| ClinGen | rs1801028 |
| ebi | rs1801028 |
| HLI | rs1801028 |
| Exac | rs1801028 |
| Gnomad | rs1801028 |
| Varsome | rs1801028 |
| LitVar | rs1801028 |
| Map | rs1801028 |
| PheGenI | rs1801028 |
| Biobank | rs1801028 |
| 1000 genomes | rs1801028 |
| hgdp | rs1801028 |
| ensembl | rs1801028 |
| geneview | rs1801028 |
| scholar | rs1801028 |
| rs1801028 | |
| pharmgkb | rs1801028 |
| gwascentral | rs1801028 |
| openSNP | rs1801028 |
| 23andMe | rs1801028 |
| SNPshot | rs1801028 |
| SNPdbe | rs1801028 |
| MSV3d | rs1801028 |
| GWAS Ctlg | rs1801028 |
| GMAF | 0.0225 |
| Max Magnitude | 0 |
rs1801028 is a SNP in the dopamine D2 receptor DRD2 gene. A meta-analysis comprising 27 samples and over 3,707 schizophrenia patients concluded that Cys/Ser heterozygotes, i.e. rs1801028(C;G) genotypes, were at elevated risk for schizophrenia when compared to either homozygote genotype (rs1801028(C;C) or rs1801028(G;G)). The odds ratio was 1.4 (p<0.005).[PMID 16402354
]
An earlier meta-analysis comprising over 9,000 schizophrenia patients concluded pretty much the same thing: the Cys311 (rs1801028(G)) allele frequency led to an odds ratio of 1.43 (CI: 1.16-1.78, p<0.001) for this risk allele.[PMID 12707934]
A study of ~120 Chinese patients with schizophrenia concluded that Cys/Ser heterozygotes may not respond to risperidone treatment as well as Ser/Ser homozygotes.[PMID 15140279]
A paper has been published describing mistakes made in assigning allele status for this SNP:
- [PMID 18154681
] (free full text) Misassigned alleles can annihilate efforts to control quality in otherwise well-designed genetic association analyses. To date, the issue remains underreported, as is exemplified by studies of a diallelic DRD2 missense variant in schizophrenia. For this variant, allele frequency data have been either misassigned, or incorrectly cited on four consecutive occasions. Contrary to conjecture, low heterozygosity has not guarded against the error with regard to rs1801028, a SNP that features a canonical base pair transversion, G:C.
In the case of rs1801028, rs1801028(C) is the more common allele, encoding the amino acid Serine at position 311, whereas rs1801028(G) encodes Cysteine.
[PMID 20046399] Genetic polymorphisms in dopamine- and serotonin-related genes and treatment responses to risperidone and perospirone
[PMID 19512960] Genetic diagnostics of functional variants of the human dopamine D2 receptor gene
[PMID 20421849] Habituation in prepulse inhibition is affected by a polymorphism on the NMDA receptor 2B subunit gene (GRIN2B)
[PMID 21714067] Association between polymorphisms of DRD2 and DRD4 and opioid dependence: Evidence from the current studies
[PMID 18332877] Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan.
[PMID 18715757] Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
[PMID 18829695] Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia.
[PMID 19911060] Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
[PMID 19913597] An association study of DRD2 gene polymorphisms with schizophrenia in a Chinese Han population.
[PMID 20179754] Genetically determined measures of striatal D2 signaling predict prefrontal activity during working memory performance.
[PMID 21162693] Pharmacogenetics and antipsychotics: therapeutic efficacy and side effects prediction.
[PMID 21172166] Pharmacogenetics of antidepressant response.
| ClinVar | |
|---|---|
| Risk | Rs1801028(G;G) |
| Alt | Rs1801028(G;G) |
| Reference | Rs1801028(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | DRD2 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000011.9:g.113283484G>C |
| CLNSRC | |
| CLNACC | RCV000250604.2, |
[PMID 31848444] An epistasis between dopaminergic and oxytocinergic systems confers risk of post-traumatic stress disorder in a traumatized Chinese cohort.
[PMID 33588721] Risk Genes in Schizophrenia and Their Importance in Choosing the Appropriate Antipsychotic Treatment.
