Gene Report

Approved Symbol	P2RX7
Symbol Alias	P2X7, MGC20089
Approved Name	purinergic receptor P2X, ligand gated ion channel, 7
Previous Name	purinergic receptor P2X, ligand-gated ion channel, 7
Location	12q24
Position	chr12:121132819-121188032, 1
External Links	HGNC: 8537 Entrez Gene: 5027 Ensembl: ENSG00000089041 UCSC: uc001tzm.3
No. of Studies	9 (Positive: 2; Negative: 7; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McQuillin, A.,2009	SNP: rs1718119, rs208293, rs208294, rs2230912, rs504677 Haplotype: rs1718119 - rs2230912(), rs208293 - rs1718119 - rs2230912 - rs11065501(), rs208293 - rs504677 - rs1718119 - rs2230912 - rs11065501(), rs208293 - rs504677 - rs2230912 - rs11065501(), rs208294 - rs504677 - rs2230912(), rs504677 - rs2230912() Other variant: P2RX7_P2RX73, P2RX7_NBG6	We set out to replicate the association findings with P2RX7 in our UK bipolar disorder case-control sample and to carry out a combined analysis of previous studies.Our results largely confirm the previous findings and strengthen the evidence for a role for P2RX7 in susceptibility to mood disorders.	Positive	Comment on Study
Hejjas, K.,2009	SNP: rs2230912	The case-control analysis did not yield significant results, comparing either the overall patient sample, or the MDD and BPD groups separately to the control group.But both anxiety and depression scores increased as the number of G-allele increased in the genotype groups.A significant interaction of clinical status and the P2RX7 polymorphism was also found for the depression scale.	Negative	Comment on Study
Grigoroiu-Serbanescu, M.,2009	SNP: rs2230912	We found no allelic or genotypic association between rs2230912 and BPI or Mdd-UP both in the national samples and in the combined European patient sample.	Negative	Comment on Study
Green, E. K.,2009	SNP: rs1186055, rs1621388, rs1718119, rs1718133, rs208293, rs208298, rs2230912, rs503720, rs591874	We found no support from either association studies or our study of the chromosome 12-linked families to support the finding of P2RX7 influencing susceptibility to bipolar or unipolar disorder.	Negative	Comment on Study
Halmai Z, 2013	SNP: rs2230912, rs1653625	In the case-control analysis we did not find any significant differences between genotype frequencies of either BPD or MDD cases and controls. Our genetic association study supports the association between P2RX7 gene and severity of depressive symptoms in BPD patients.	Negative	Comment on Study
Barden, N., 2006	SNP: rs1653625, rs1718119, rs2230912, rs504677 Haplotype: rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(C-C-C-A-G-C-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(C-C-C-G-G-C-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(C-T-C-A-G-C-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(C-T-C-G-G-C-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(C-T-C-G-G-G-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(C-T-T-G-A-C-G), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(T-C-C-A-G-C-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(T-C-T-G-A-C-A), rs208293 - rs208294 - rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912(T-C-T-G-A-C-G), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(C-A-G-C-A-C-A-C), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(C-G-G-C-A-C-C-C), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(T-G-A-C-G-C-A-A), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(T-G-A-C-A-C-A-A), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(C-G-G-G-A-T-A-A), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(C-G-G-C-A-C-A-C), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(C-G-A-C-A-C-A-A), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(C-A-G-C-G-C-A-C), rs504677 - rs7958311 - rs1718119 - rs6489795 - rs2230912 - rs3751144 - rs3751143 - rs1653625(T-G-G-C-A-C-A-C), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-A-G-G-C-T-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-C-C-A), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-C-C-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-C-T-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-G-C-A), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-A-A-G-C-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-G-A-C-C-A), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(A-C-G-A-C-C-T), rs1653625 - rs28360463 - rs1653622 - rs11065500 - rs11065501 - rs4980999 - rs3817190(C-C-A-A-C-C-T)	Allelic, genotypic or family-based association studies suggest the presence of two susceptibility loci, the P2RX7 and CaMKK2genes.	Positive	Comment on Study
Soronen, P.,2011	SNP: rs208290, rs208294, rs2230912, rs591874	No significant association of this gene was observed in BD.	Negative	Comment on Study
Yosifova, A.,2009	SNP: rs1718119, rs2230912	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study
Feng, W. P., 2014	SNP: rs2230912	Our meta-analysis suggests that P2RX7 gene rs2230912 polymorphism may not contribute to the risk of developing mood disorders using a case-control design.	Negative	Comment on Study

Region: chr12:121132819..121188032 View in gBrowse