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

被引：0

作者：

Zheng Dong

Jingru Zhou

Shuai Jiang

Yuan Li

Dongbao Zhao

Chengde Yang

Yanyun Ma

Yi Wang

Hongjun He

Hengdong Ji

Yajun Yang

Xiaofeng Wang

Xia Xu

Yafei Pang

Hejian Zou

Li Jin

Jiucun Wang

机构：

[1] State Key Laboratory of Genetic Engineering,Division of Rheumatology and Immunology

[2] Collaborative Innovation Center for Genetics and Development,Division of Rheumatology

[3] School of Life Sciences,Division of Rheumatology

[4] Fudan University Jiangwan Campus,Division of Rheumatology

[5] Changhai Hospital,Division of Rheumatology

[6] Ruijin Hospital,undefined

[7] Shanghai Jiaotong University School of Medicine,undefined

[8] Taixing People’s Hospital,undefined

[9] Taizhou People’s Hospital,undefined

[10] Fudan-Taizhou Institute of Health Sciences,undefined

[11] Taizhou,undefined

[12] Huashan Hospital,undefined

[13] Fudan University,undefined

[14] Institute of Rheumatology,undefined

[15] Immunology and Allergy,undefined

[16] Fudan University,undefined

来源：

Scientific Reports | / 7卷

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摘要：

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.

引用

共 38 条

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