|(A;A)||0||common on affy axiom data|
This SNP has been reported to be associated with increased risk for bipolar disorder in one study [PMID 18268501], 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)[PMID 19160446].
The G allele is the putative risk allele.
[PMID 19330776] Variation in P2RX7 candidate gene (rs2230912) is not associated with bipolar I disorder and unipolar major depression in four European samples
[PMID 20446288] Analysis of a polymorphic microRNA target site in the purinergic receptor P2RX7 gene
[PMID 16673375] Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder.
[PMID 16822851] P2RX7, a gene coding for a purinergic ligand-gated ion channel, is associated with major depressive disorder.
[PMID 18543274] Association between depression and the Gln460Arg polymorphism of P2RX7 gene: a dimensional approach.
[PMID 18801407] P2RX7 Gln460Arg polymorphism is associated with depression among diabetic patients.
[PMID 19319666] Genetics of the P2X7 receptor and human disease.
[PMID 20360457] 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.
[PMID 21335057] P2RX7 polymorphisms Gln460Arg and His155Tyr are not associated with major depressive disorder or remission after SSRI or ECT.
[PMID 21438144] P2RX7 gene is associated consistently with mood disorders and predicts clinical outcome in three clinical cohorts.
[PMID 22952630] P2RX7: Expression Responds to Sleep Deprivation and Associates with Rapid Cycling in Bipolar Disorder Type 1
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 23819992] Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjogren's syndrome
[PMID 23602648] Associations between depression severity and purinergic receptor P2RX7 gene polymorphisms
[PMID 22661222] P2X7 receptor activation mediates organic cation uptake into human myeloid leukaemic KG-1 cells.
[PMID 22776862] Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.
[PMID 25865535] Genetic and treatment-related risk factors associated with external apical root resorption (EARR) concurrent with orthodontia