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rs1801028

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal risk
(C;G) 1.4x risk for schizophrenia
(G;G) 0 normal risk
ReferenceGRCh38 38.1/142
Chromosome11
Position113412762
GeneDRD2
is asnp
is mentioned by
dbSNPrs1801028
ebirs1801028
HLIrs1801028
Exacrs1801028
Varsomers1801028
Maprs1801028
PheGenIrs1801028
hapmaprs1801028
1000 genomesrs1801028
hgdprs1801028
ensemblrs1801028
gopubmedrs1801028
geneviewrs1801028
scholarrs1801028
googlers1801028
pharmgkbrs1801028
gwascentralrs1801028
openSNPrs1801028
23andMers1801028
23andMe allrs1801028
SNP Nexus

SNPshotrs1801028
SNPdbers1801028
MSV3drs1801028
GWAS Ctlgrs1801028
GMAF0.0225
Max Magnitude0
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 16402354OA-icon.png]

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 18154681OA-icon.png] (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.

Neighborrs1076560
Distance204
Neighborrs6275
Distance7
Neighborrs1800496
Distance4
[PMID 20046399OA-icon.png] 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 18332877OA-icon.png] Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan.


[PMID 18715757OA-icon.png] Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.


[PMID 18829695OA-icon.png] Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia.


[PMID 19911060OA-icon.png] 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 20179754OA-icon.png] Genetically determined measures of striatal D2 signaling predict prefrontal activity during working memory performance.


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


[PMID 21172166OA-icon.png] Pharmacogenetics of antidepressant response.


GET Evidence
DRD2-S311C
aa_change Ser311Cys
aa_change_short S311C
impact pathogenic
qualified_impact Low clinical importance, Likely pathogenic
overall_frequency 0.0168247
summary Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average).