Published in:
01-08-2015 | Review Article - Genes and Disease
Correlation between P2X7 receptor gene polymorphisms and gout
Authors:
Qiong-yao Gong, Yong Chen
Published in:
Rheumatology International
|
Issue 8/2015
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Abstract
Not all patients with hyperuricemia will develop acute gouty arthritis, indicating that other initiating factors need to be considered. The P2X7 receptor is an adenosine triphosphate-gated nonselective cation channel that has also been suggested to be a proinflammatory receptor. In the immune system, the P2X7 receptor is involved in the processing and release of various proinflammatory cytokines, including interleukin-1β (IL-1β), IL-18 and tumor necrosis factor-α (TNF-α). IL-1β is a central cytokine in the initiation of the acute inflammatory response, which plays a key role in the pathogenesis of gout and the pathology of acute gouty arthritis. This review will explore single-nucleotide polymorphisms in the P2X7R gene [including rs1718119 (Ala348Thr), rs208294 (His155Tyr), rs3751143 (Glu496Ala), rs28360457 (Arg307Gln) and rs2230911 (Thr357Ser)] and their correlation with the incidence of gout. We conclude that P2X7R gene polymorphisms impact the secretion of IL-1β and thus play a vital role in the pathogenesis of gout.