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rs2230912

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs2230912(A;G)
Make rs2230912(G;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position121184393
GeneP2RX7
is asnp
is mentioned by
dbSNPrs2230912
ebirs2230912
HLIrs2230912
Exacrs2230912
Varsomers2230912
Maprs2230912
PheGenIrs2230912
hapmaprs2230912
1000 genomesrs2230912
hgdprs2230912
ensemblrs2230912
gopubmedrs2230912
geneviewrs2230912
scholarrs2230912
googlers2230912
pharmgkbrs2230912
gwascentralrs2230912
openSNPrs2230912
23andMers2230912
23andMe allrs2230912
SNP Nexus

SNPshotrs2230912
SNPdbers2230912
MSV3drs2230912
GWAS Ctlgrs2230912
GMAF0.06795
Max Magnitude0
? (A;A) (A;G) (G;G) 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 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 19319666OA-icon.png] 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 22952630OA-icon.png] P2RX7: Expression Responds to Sleep Deprivation and Associates with Rapid Cycling in Bipolar Disorder Type 1


GET Evidence
P2RX7-Q460R
aa_change Gln460Arg
aa_change_short Q460R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.126232
summary



[PMID 23819992OA-icon.png] 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 22661222OA-icon.png] P2X7 receptor activation mediates organic cation uptake into human myeloid leukaemic KG-1 cells.


[PMID 22776862OA-icon.png] 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