Rs2230912

rs2230912, also known as Q460R, is a SNP in the purinergic receptor P2X, ligand-gated ion channel, 7 P2RX7 gene.

This SNP has been reported to be associated with increased risk for bipolar disorder in one study, but the association was not replicated in a large UK case-control sample (bipolar I disorder N = 687, unipolar recurrent major depression N = 1,036, controls N = 1,204).

The G allele is the putative risk allele.

Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.

P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.

Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach.

P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patients.

Genetics of the P2X7 receptor and human disease.

Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.

P2RX7 polymorphisms Gln460Arg and His155Tyr are not associated with major depressive disorder or remission after SSRI or ECT.

P2RX7 gene is associated consistently with mood disorders and predicts clinical outcome in three clinical cohorts.