{{Rsnum
|rsid=1801028
|Gene=DRD2
|Chromosome=11
|position=113412762
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=G
|GMAF=0.0225
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(C;G)
|geno3=(C;C)
|Gene_s=DRD2
}}[[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|OA=1
}} 

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|OA=1
}} (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.

{{ neighbor
| rsid = 1076560
| distance = 204
}}

{{ neighbor
| rsid = 6275
| distance = 7
}}
{{ neighbor
| rsid = 1800496
| distance = 4
}}

{{PharmGKB
|RSID=rs1801028
|Name_s=DRD2:Ser311Cys; DRD2:1097C>G
|Gene_s=DRD2
|Feature=
|Evidence=Web Resource:http://www.pharmgkb.org/search/annotatedGene/drd2/variant.jsp
|Annotation=Cys311 variant has decreased affinity for dopamine; no clear concensus on association between Ser311Cys polymorphism and schizophrenia.
|Drugs=dopamine
|Drug Classes=
|Diseases=Schizophrenia
|Curation Level=In-Depth
|PharmGKB Accession ID=PA161145173
}}

{{PMID Auto
|PMID=20046399
|Title=Genetic polymorphisms in dopamine- and serotonin-related genes and treatment responses to risperidone and perospirone
|OA=1
}}

{{PMID Auto
|PMID=19512960
|Title=Genetic diagnostics of functional variants of the human dopamine D2 receptor gene
}}

{{PMID Auto
|PMID=20421849
|Title=Habituation in prepulse inhibition is affected by a polymorphism on the NMDA receptor 2B subunit gene (GRIN2B)
}}

{{PMID Auto
|PMID=21714067
|Title=Association between polymorphisms of DRD2 and DRD4 and opioid dependence: Evidence from the current studies
}}

{{PMID Auto
|PMID=18332877
|Title=Family-based association testing strongly implicates DRD2 as a risk gene for schizophrenia in Han Chinese from Taiwan.
|OA=1
}}

{{PMID Auto
|PMID=18715757
|Title=Genetic associations with schizophrenia: meta-analyses of 12 candidate genes.
|OA=1
}}

{{PMID Auto
|PMID=18829695
|Title=Functional variants of the dopamine receptor D2 gene modulate prefronto-striatal phenotypes in schizophrenia.
|OA=1
}}

{{PMID Auto
|PMID=19911060
|Title=Persistence criteria for susceptibility genes for schizophrenia: a discussion from an evolutionary viewpoint.
|OA=1
}}

{{PMID Auto
|PMID=19913597
|Title=An association study of DRD2 gene polymorphisms with schizophrenia in a Chinese Han population.
}}

{{PMID Auto
|PMID=20179754
|Title=Genetically determined measures of striatal D2 signaling predict prefrontal activity during working memory performance.
|OA=1
}}

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

{{PMID Auto
|PMID=21172166
|Title=Pharmacogenetics of antidepressant response.
|OA=1
}}

{{GET Evidence
|gene=DRD2
|aa_change=Ser311Cys
|aa_change_short=S311C
|impact=pathogenic
|qualified_impact=Low clinical importance, Likely pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs1801028
|overall_frequency_n=181
|overall_frequency_d=10758
|overall_frequency=0.0168247
|n_genomes=2
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=6
|n_articles_annotated=6
|qualityscore_in_silico=0
|qualitycomment_in_silico=Y
|qualityscore_in_vitro=2
|qualitycomment_in_vitro=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=4
|qualitycomment_treatability=Y
|gene_in_genetests=Y
|in_pharmgkb=Y
|pph2_score=0.799
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=3
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=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).
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}