The functional change of the P2X7R containing the Ala³⁴⁸ to Thr polymorphism is associated with the pathogenesis of gout.

ABSTRACT: Our previous study has shown that ATP action on P2X7R could be the second signal to induce the onset of gouty arthritis. However, the functional changes of P2X7R single nucleotide polymorphisms (SNPs) on the effects of ATP-P2X7R-IL-1β signaling pathway and uric acid remained unknown. We aimed to investigate the association between the functional change of P2X7R containing the Ala³⁴⁸ to Thr polymorphisms (rs1718119) and the pathogenesis of gout. First, 270 gout patients and 70 hyperuricemic patients (without gout attack history in recent 5 years) were recruited for genotyping. In addition, the changes of ATP-induced pore formation were assessed in HEK-293T cells overexpressing different mutants in P2RX7, and the effects on P2X7R-NLRP3-IL-1β pathway activation were explored in P2R

SUBMITTER: Li MY 

PROVIDER: S-EPMC10076518 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature