{{Rsnum
|rsid=2230912
|Gene=P2RX7
|Chromosome=12
|position=121184393
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.06795
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=P2RX7
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 66.4 | 30.1 | 3.5
| HCB | 99.3 | 0.7 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 94.6 | 5.4 | 0.0
| ASW | 94.7 | 5.3 | 0.0
| CHB | 99.3 | 0.7 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 71.3 | 26.7 | 2.0
| LWK | 80.9 | 18.2 | 0.9
| MEX | 87.9 | 12.1 | 0.0
| MKK | 71.8 | 26.9 | 1.3
| TSI | 78.4 | 19.6 | 2.0
| HapMapRevision=28
}}[[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 {{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 Auto
|PMID=19330776
|Title=Variation in P2RX7 candidate gene (rs2230912) is not associated with bipolar I disorder and unipolar major depression in four European samples
}}

{{PMID Auto
|PMID=20446288
|Title=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|OA=1
}} 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 Auto
|PMID=22952630
|Title=P2RX7: Expression Responds to Sleep Deprivation and Associates with Rapid Cycling in Bipolar Disorder Type 1
|OA=1
}}

{{GET Evidence
|gene=P2RX7
|aa_change=Gln460Arg
|aa_change_short=Q460R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2230912
|overall_frequency_n=1358
|overall_frequency_d=10758
|overall_frequency=0.126232
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=23819992
|Title=Epistasis with HLA DR3 implicates the P2X7 receptor in the pathogenesis of primary Sjogren's syndrome
|OA=1
}}

{{PMID Auto
|PMID=23602648
|Title=Associations between depression severity and purinergic receptor P2RX7 gene polymorphisms
}}

{{PMID Auto
|PMID=22661222
|Title=P2X7 receptor activation mediates organic cation uptake into human myeloid leukaemic KG-1 cells.
|OA=1
}}

{{PMID Auto
|PMID=22776862
|Title=Association of P2X7 receptor polymorphisms with bone mineral density and osteoporosis risk in a cohort of Dutch fracture patients.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}