Literature DB >> 25800962

Correlation between P2X7 receptor gene polymorphisms and gout.

Qiong-Yao Gong1, Yong Chen.   

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.

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Year:  2015        PMID: 25800962     DOI: 10.1007/s00296-015-3258-5

Source DB:  PubMed          Journal:  Rheumatol Int        ISSN: 0172-8172            Impact factor:   2.631


  33 in total

Review 1.  The role of interleukin-1 and the inflammasome in gout: implications for therapy.

Authors:  Richard M Pope; Jürg Tschopp
Journal:  Arthritis Rheum       Date:  2007-10

2.  Two haplotypes of the P2X(7) receptor containing the Ala-348 to Thr polymorphism exhibit a gain-of-function effect and enhanced interleukin-1beta secretion.

Authors:  Leanne Stokes; Stephen J Fuller; Ronald Sluyter; Kristen K Skarratt; Ben J Gu; James S Wiley
Journal:  FASEB J       Date:  2010-04-01       Impact factor: 5.191

3.  A His-155 to Tyr polymorphism confers gain-of-function to the human P2X7 receptor of human leukemic lymphocytes.

Authors:  Giulio Cabrini; Simonetta Falzoni; Sylvia L Forchap; Patrizia Pellegatti; Alessandra Balboni; Paola Agostini; Antonio Cuneo; Gianluigi Castoldi; O Roberto Baricordi; Francesco Di Virgilio
Journal:  J Immunol       Date:  2005-07-01       Impact factor: 5.422

Review 4.  Mechanisms of uric acid crystal-mediated autoinflammation.

Authors:  Fabio Martinon
Journal:  Immunol Rev       Date:  2010-01       Impact factor: 12.988

5.  A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.

Authors:  Anne N Shemon; Ronald Sluyter; Suran L Fernando; Alison L Clarke; Lan-Phuong Dao-Ung; Kristen K Skarratt; Bernadette M Saunders; Khai See Tan; Ben J Gu; Stephen J Fuller; Warwick J Britton; Steven Petrou; James S Wiley
Journal:  J Biol Chem       Date:  2005-11-01       Impact factor: 5.157

Review 6.  The P2X7 receptor: a key player in IL-1 processing and release.

Authors:  Davide Ferrari; Cinzia Pizzirani; Elena Adinolfi; Roberto M Lemoli; Antonio Curti; Marco Idzko; Elisabeth Panther; Francesco Di Virgilio
Journal:  J Immunol       Date:  2006-04-01       Impact factor: 5.422

7.  An Arg307 to Gln polymorphism within the ATP-binding site causes loss of function of the human P2X7 receptor.

Authors:  Ben J Gu; Ronald Sluyter; Kristen K Skarratt; Anne N Shemon; Lan-Phuong Dao-Ung; Stephen J Fuller; Julian A Barden; Alison L Clarke; Steven Petrou; James S Wiley
Journal:  J Biol Chem       Date:  2004-04-27       Impact factor: 5.157

Review 8.  P2X7R: a potential key regulator of acute gouty arthritis.

Authors:  Jin-Hui Tao; Yong Zhang; Xiang-Pei Li
Journal:  Semin Arthritis Rheum       Date:  2013-06-17       Impact factor: 5.532

9.  The P2X(7) loss-of-function Glu496Ala polymorphism affects ex vivo cytokine release and protects against the cytotoxic effects of high ATP-levels.

Authors:  Anke Wesselius; Martijn J L Bours; Ilja C W Arts; Esther H E Theunisz; Piet Geusens; Pieter C Dagnelie
Journal:  BMC Immunol       Date:  2012-12-04       Impact factor: 3.615

10.  Purinergic signalling in bone.

Authors:  Robin M H Rumney; Ning Wang; Ankita Agrawal; Alison Gartland
Journal:  Front Endocrinol (Lausanne)       Date:  2012-09-19       Impact factor: 5.555

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  7 in total

1.  Study on the expressions of NLRP3 gene transcript variants in peripheral blood monocytes of primary gout patients.

Authors:  Wantai Dang; Dan Xu; Wenguang Xie; Jingguo Zhou
Journal:  Clin Rheumatol       Date:  2018-06-26       Impact factor: 2.980

2.  Identification of rs11615992 as a novel regulatory SNP for human P2RX7 by allele-specific expression.

Authors:  Tao Peng; Li Zhong; Jing Gao; Zhu Wan; Wei-Ping Fu; Chang Sun
Journal:  Mol Genet Genomics       Date:  2019-08-13       Impact factor: 3.291

Review 3.  Genetics of HIV-associated sensory neuropathy and related pain in Africans.

Authors:  Huguette Gaelle Ngassa Mbenda; Antonia Wadley; Zane Lombard; Catherine Cherry; Patricia Price; Peter Kamerman
Journal:  J Neurovirol       Date:  2017-05-30       Impact factor: 2.643

4.  Genetic Association for P2X7R rs3751142 and CARD8 rs2043211 Polymorphisms for Susceptibility of Gout in Korean Men: Multi-Center Study.

Authors:  Sung Won Lee; Shin Seok Lee; Dong Ho Oh; Dong Jin Park; Hyun Sook Kim; Jung Ran Choi; Soo Cheon Chae; Ki Jung Yun; Won Tae Chung; Jung Yoon Choe; Seong Kyu Kim
Journal:  J Korean Med Sci       Date:  2016-10       Impact factor: 2.153

Review 5.  Purinergic Signaling in the Regulation of Gout Flare and Resolution.

Authors:  Xiaoling Li; Jie Gao; Jinhui Tao
Journal:  Front Immunol       Date:  2021-12-01       Impact factor: 7.561

6.  Z1456467176 alleviates gouty arthritis by allosterically modulating P2X7R to inhibit NLRP3 inflammasome activation.

Authors:  Xiaoling Li; Yiming Liu; Chengyu Luo; Jinhui Tao
Journal:  Front Pharmacol       Date:  2022-08-16       Impact factor: 5.988

Review 7.  P2X7 receptor-mediated TG2 externalization: a link to inflammatory arthritis?

Authors:  Daniel Aeschlimann; Vera Knäuper
Journal:  Amino Acids       Date:  2016-08-25       Impact factor: 3.520

  7 in total

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