2017
DOI: 10.1007/5584_2017_59
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Abstract: The P2X7 receptor is a trimeric ion channel gated by extracellular adenosine 5'-triphosphate. The receptor is present on an increasing number of different cells types including stem, blood, glial, neural, ocular, bone, dental, exocrine, endothelial, muscle, renal and skin cells. The P2X7 receptor induces various downstream events in a cell-specific manner, including inflammatory molecule release, cell proliferation and death, metabolic events, and phagocytosis. As such this receptor plays important roles in he… Show more

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Cited by 165 publications
(115 citation statements)
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“…Although the independent chi‐squared analyses did not detect significant differences in allele and genotype frequencies for each SNP between LAP and HUC subjects, stepwise logistic regression detected significant association of the rs1718119 A gain‐of‐function allele with a higher risk for LAP ( P = 0.0063), with odds ratio of 1.904 for individuals having at least one A allele (95% confidence interval of 1.2‐3.022). This was consistent with haplotype analysis based on perfect linkage disequilibrium found in our subjects among three SNPs (rs1718119, rs2230911 and rs3751143, D' = 1.0), as also reported in literature and databases for multiple populations . From these three SNPs, a total of four haplotypes and nine diplotypes were represented among all subjects (Tables and ).…”
Section: Resultssupporting
confidence: 92%
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“…Although the independent chi‐squared analyses did not detect significant differences in allele and genotype frequencies for each SNP between LAP and HUC subjects, stepwise logistic regression detected significant association of the rs1718119 A gain‐of‐function allele with a higher risk for LAP ( P = 0.0063), with odds ratio of 1.904 for individuals having at least one A allele (95% confidence interval of 1.2‐3.022). This was consistent with haplotype analysis based on perfect linkage disequilibrium found in our subjects among three SNPs (rs1718119, rs2230911 and rs3751143, D' = 1.0), as also reported in literature and databases for multiple populations . From these three SNPs, a total of four haplotypes and nine diplotypes were represented among all subjects (Tables and ).…”
Section: Resultssupporting
confidence: 92%
“…Analysis of genetic variants in context of presence or expression of a condition is one method of detecting evidence of an association between a gene and the condition. We investigated the possible contribution of P2RX7 to LAP because this leucocyte‐expressed protein acts as a cation channel (upon binding of millimolar levels of extracellular ATP such as released during cell death) or opens as a pore (under extended ATP activation) leading to inflammasome assembly and subsequent production of pro‐inflammatory cytokines . To test P2RX7 as a candidate gene for LAP, we analysed four non‐synonymous SNPs in a case‐control genetic association study, as well as their relationship to peripheral blood LPS‐stimulated cytokine/chemokine response in LAP and HUC patient samples.…”
Section: Discussionmentioning
confidence: 99%
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