|(C;G)||1.4x risk for schizophrenia|
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 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.
|qualified_impact||Low clinical importance, Likely pathogenic|
|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).|