The presence of P2RX7 single nuclear polymorphism is associated with a gain of function in P2X7 receptor and inflammasome activation in SLE complicated with pericarditis.

Abstract

Our results suggest that 489 C>T polymorphism of the P2RX7 gene is associated with activation of inflammasome NLRP3 and an increased release of IL-1β and IL-18. The EB uptake increase in macrophages of LE+PCS subjects carrying 489C>T displays the functional upregulation of P2RX7, which may be involved in the pathogenesis of SLE complicated with pericarditis in the presence of P2RX7 SNP 489C>T.