Innate immunity functional gene polymorphisms and gout susceptibility

被引:27
作者
Qing, Yu-Feng [1 ]
Zhang, Quan-Bo [2 ]
Zhou, Jing-Guo [1 ]
机构
[1] North Sichuan Med Coll, Affiliated Hosp, Dept Immunol & Rheumatol, Nanchong 637000, Sichuan, Peoples R China
[2] North Sichuan Med Coll, Affiliated Hosp, Dept Geriatr, Nanchong 637000, Sichuan, Peoples R China
关键词
Gout; Susceptibility; Innate immunity; TLRs; NALP3; Inflammasome; CROHNS-DISEASE; HYPERURICEMIA; ASSOCIATION; VARIANTS;
D O I
10.1016/j.gene.2013.04.039
中图分类号
Q3 [遗传学];
学科分类号
071007 [遗传学];
摘要
Gout is a common autoinflammatory disease characterized with elevated serum urate and recurrent attacks of intra-articular crystal deposition of monosodium urate. Accumulating evidence has demonstrated that MSU crystal-induced inflammation is a paradigm of innate immunity and the TLRs, NALP3 inflammasome and IL1R pathways are involved in gout development. Innate immunity components containing TLR2, TLR4, CD14, NALP3, ASC, Caspase-1 and CARD-8 are essential in the development of gouty inflammation. Recent studies suggest that innate immunity component gene functional mutations contribute to the development of autoinflammatory diseases including hereditary periodic fever syndrome, arthritis as well as inflammatory bowel disease. Taking into account these genetic findings, we would like to propose a novel hypothesis that the gene functional mutations might make innate immunity components as attractive susceptibility candidates and genetic markers for gout. Further Clinical genetic studies need to be performed to confirm the role of innate immunity in the etiology of gout. (C) 2013 Elsevier B.V. All rights reserved.
引用
收藏
页码:412 / 414
页数:3
相关论文
共 17 条
[1]
Miao ZM, 2008, J RHEUMATOL, V35, P1859
[2]
Miao ZM, 2006, CHIN J ENDOCRINOL ME, V22, P421, DOI DOI 10.3760/J.ISSN:1000-6699.2006.05.005
[3]
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU [J].
Neven, B ;
Callebaut, I ;
Prieur, AM ;
Feldmann, J ;
Bodemer, C ;
Lepore, L ;
Derfalvi, B ;
Benjaponpitak, S ;
Vesely, R ;
Sauvain, MJ ;
Oertle, S ;
Allen, R ;
Morgan, G ;
Borkhardt, A ;
Hill, C ;
Gardner-Medwin, J ;
Fischer, A ;
Saint Basile, GD .
BLOOD, 2004, 103 (07) :2809-2815
[4]
The Missense Variation Q705K in CIAS1/NALP3/NLRP3 Gene and an NLRP1 Haplotype Are Associated With Celiac Disease [J].
Pontillo, Alessandra ;
Vendramin, Anna ;
Catamo, Eulalia ;
Fabris, Annalisa ;
Crovella, Sergio .
AMERICAN JOURNAL OF GASTROENTEROLOGY, 2011, 106 (03) :539-544
[5]
Recent insights into the pathogenesis of hyperuricaemia and gout [J].
Riches, Philip L. ;
Wright, Alan F. ;
Ralston, Stuart H. .
HUMAN MOLECULAR GENETICS, 2009, 18 :R177-R184
[6]
Gout [J].
Richette, Pascal ;
Bardin, Thomas .
LANCET, 2010, 375 (9711) :318-328
[7]
Epidemiology, risk factors, and lifestyle modifications for gout [J].
Saag, Kenneth G. ;
Choi, Hyon .
ARTHRITIS RESEARCH & THERAPY, 2006, 8 (Suppl 1)
[8]
Combined Polymorphisms in Genes Encoding the Inflammasome Components NALP3 and CARD8 Confer Susceptibility to Crohn's Disease in Swedish Men [J].
Schoultz, Ida ;
Verma, Deepti ;
Halfvarsson, Jonas ;
Torkvist, Leif ;
Fredrikson, Mats ;
Sjoqvist, Urban ;
Lordal, Mikael ;
Tysk, Curt ;
Lerm, Maria ;
Soderkvist, Peter ;
Soderholm, Johan D. .
AMERICAN JOURNAL OF GASTROENTEROLOGY, 2009, 104 (05) :1180-1188
[9]
The Toll-Like Receptor 4 D299G and T399I Polymorphisms Are Associated with Crohn's Disease and Ulcerative Colitis: A Meta-Analysis [J].
Shen, Xiuyun ;
Shi, Ruihua ;
Zhang, Hongjie ;
Li, Kebei ;
Zhao, Yang ;
Zhang, Ruyang .
DIGESTION, 2010, 81 (02) :69-77
[10]
Molecular identification of a danger signal that alerts the immune system to dying cells [J].
Shi, Y ;
Evans, JE ;
Rock, KL .
NATURE, 2003, 425 (6957) :516-521