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中国汉族人群中尿酸转运蛋白多态性在痛风发病机制中的作用

Polymorphisms of uric transporter proteins in the pathogenesis of gout in a Chinese Han population.

作者信息

Wan W, Xu X, Zhao D B, Pang Y F, Wang Y X

机构信息

Department of Rheumatology and Immunology, Shanghai Hospital of Second Military Medical University, Shanghai, China.

Department of Rheumatology and Immunology, Shanghai Hospital of Second Military Medical University, Shanghai, China

出版信息

Genet Mol Res. 2015 Mar 30;14(1):2546-50. doi: 10.4238/2015.March.30.13.

DOI:10.4238/2015.March.30.13
PMID:25867401
Abstract

In this study, we analyzed single nucleotide polymorphisms (SNP) in urate transporter genes to examine the pathogenesis of gout. We conducted a 1:1-matched case-control study that included 110 patients with acute gout attacks as the patient group and 110 healthy age- and gender-matched subjects as the control group. Clinical parameters were recorded and blood biochemistry tests were conducted for both groups. Multivariate logistic regression analysis was used to analyze the data. Hyperuricemia, hypercholesterolemia, and hypertriglyceridemia were found to be the main risk factors for the onset of gout, with relative risks of 29.2 (P < 0.001), 25.5 (P = 0.003), and 11.2 (P < 0.001). For all detected SNP, rs2231142, located in ABCG2, showed the largest frequency differences for the G/G, G/T, and T/T genotypes between groups: the distribution of these genotypes in the case group was 22, 49, and 26 individuals, respectively, and was 54, 38, and 9 individuals, respectively, in the control group. There was a statistically significant difference between the 2 groups (P < 0.001) and the odds ratio was 7.091 (95% confidence interval = 2.867-17.541). Other SNPs (rs1165196, rs1165205, rs1183201, rs17300741, rs2078267, rs2242206, rs3733591, and rs9358856) showed no significant difference between the groups (P > 0.05). The risk factors of gout were hyperuricemia, hypercholesterolemia, hypertriglyceridemia, and the T/T genotype of the rs2231142 locus in the ABCG2 gene; expression of the G/G genotype may be a protective factor against gout development.

摘要

在本研究中,我们分析了尿酸转运蛋白基因中的单核苷酸多态性(SNP),以探究痛风的发病机制。我们进行了一项1:1匹配的病例对照研究,其中包括110例急性痛风发作患者作为病例组,以及110例年龄和性别匹配的健康受试者作为对照组。记录了两组的临床参数并进行了血液生化检测。采用多因素逻辑回归分析对数据进行分析。结果发现,高尿酸血症、高胆固醇血症和高甘油三酯血症是痛风发作的主要危险因素,相对风险分别为29.2(P < 0.001)、25.5(P = 0.003)和11.2(P < 0.001)。对于所有检测到的SNP,位于ABCG2基因中的rs2231142在两组之间的G/G、G/T和T/T基因型频率差异最大:这些基因型在病例组中的分布分别为22、49和26人,在对照组中分别为54、38和9人。两组之间存在统计学显著差异(P < 0.001),比值比为7.091(95%置信区间 = 2.867 - 17.541)。其他SNP(rs1165196、rs1165205、rs1183201、rs17300741、rs2078267、rs2242206、rs3733591和rs9358856)在两组之间无显著差异(P > 0.05)。痛风的危险因素为高尿酸血症、高胆固醇血症、高甘油三酯血症以及ABCG2基因rs2231142位点的T/T基因型;G/G基因型的表达可能是预防痛风发展的保护因素。

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