Associations Of Gout With Polymorphisms In Slc2a9, Wdr1, Clnk, Pkd2, And Abcg2 In Chinese Han And Tibetan Populations

INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY(2016)

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摘要
Gout is a common inflammatory arthritis triggered by the presence of monosodium urate (MSU) crystals in joints and connective tissues. Current evidence suggests that heredity contributes to gout progression. It is increasingly assumed that gout occurs when serum uric acid (SUA) levels exceed the physiological saturation threshold for uric acid. This study aims to investigate whether variations in SLC2A9, WDR1, CLNK, PKD2, and ABCG2 are associated with gout in Chinese Han and Tibetan populations. In this case-control study, 47 single nucleotide polymorphisms (SNPs) were analyzed in 438 cases (139 Han, 299 Tibetan) and 623 controls (309 Han, 314 Tibetan). The SNP-gout association analyses were performed with SPSS software, Sequenom MassARRAY RS1000, the Haploview software package, and the Chi-squared test. Using the Chi-squared test and analyses of genetic models, rs10034180 and rs16869430 in CLNK, rs717614 in WDR1, and rs12505410 in ABCG2 showed associations with increased gout susceptibility in Han populations. In contrast, rs7663032 and rs10022499 in SLC2A9 showed a reduced risk of gout in the recessive model. Additionally, in Tibetan populations, rs2108878 in CLNK, rs2725212, rs2725210, rs2725207, rs2728132, rs2725205, and rs2725203 in PKD2 showed an increase in the risk of gout, whereas rs12505410 in ABCG2 reduced the risk of gout. In summary, these data suggest significant associations between SLC2A9, WDR1, CLNK, PKD2, and ABCG2 polymorphisms and the development of gout in Chinese Han and Tibetan populations.
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关键词
Gout, hyperuricemia, single nucleotide polymorphism, polymorphism, case-control studies
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