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Effects of multiple genetic loci on the pathogenesis from serum urate to gout.

Authors: Dong, Zheng  Zhou, Jingru  Jiang, Shuai  Li, Yuan  Zhao, Dongbao  Yang, Chengde  Ma, Yanyun  Wang, Yi  He, Hongjun  Ji, Hengdong  Yang, Yajun  Wang, Xiaofeng  Xu, Xia  Pang, Yafei  Zou, Hejian  Jin, Li  Wang, Jiucun 
Citation: Dong Z, etal., Sci Rep. 2017 Mar 2;7:43614. doi: 10.1038/srep43614.
Pubmed: (View Article at PubMed) PMID:28252667
DOI: Full-text: DOI:10.1038/srep43614

Gout is a common arthritis resulting from increased serum urate, and many loci have been identified that are associated with serum urate and gout. However, their influence on the progression from elevated serum urate levels to gout is unclear. This study aims to explore systematically the effects of genetic variants on the pathogenesis in approximately 5,000 Chinese individuals. Six genes (PDZK1, GCKR, TRIM46, HNF4G, SLC17A1, LRRC16A) were determined to be associated with serum urate (PFDR < 0.05) in the Chinese population for the first time. ABCG2 and a novel gene, SLC17A4, contributed to the development of gout from hyperuricemia (OR = 1.56, PFDR = 3.68E-09; OR = 1.27, PFDR = 0.013, respectively). Also, HNF4G is a novel gene associated with susceptibility to gout (OR = 1.28, PFDR = 1.08E-03). In addition, A1CF and TRIM46 were identified as associated with gout in the Chinese population for the first time (PFDR < 0.05). The present study systematically determined genetic effects on the progression from elevated serum urate to gout and suggests that urate-associated genes functioning as urate transporters may play a specific role in the pathogenesis of gout. Furthermore, two novel gout-associated genes (HNF4G and SLC17A4) were identified.


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CRRD Object Information
CRRD ID: 13831120
Created: 2018-12-13
Species: All species
Last Modified: 2018-12-13
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.