BackgroundSerum uric acid (SUA), hyperuricemia (HUA) and gout are complex traits with relatively high heritability. This study aims to identify whether a candidate gene, SLC28A2, exerts susceptibility for SUA fluctuation and incidence of HUA and gout in the Han Chinese population.ResultsThree sample sets of 1376 gout patients, 1290 long-term HUA subjects (no gout attack) and 1349 normouricemic controls were recruited for this study. Eight polymorphisms in the SLC28A2 gene were genotyped using the ligase detection reaction-polymerase chain reaction (LDR-PCR) technology. Rs16941238 showed the most significant associations with SUA level (minor allele “A”, BETA = − 13.84 μmol/L, P = 0.0041, Pperm = 0.0042) and HUA (OR = 0.7734, P = 0.0033, Pperm = 0.0020), but not with gout (OR = 0.8801, P = 0.1315, Pperm = 0.1491). Rs2271437 was significantly associated with gout (minor allele “G”, OR = 1.387, P = 0.0277, Pperm = 0.0288), and was further confirmed in the meta-analysis with the previously published gout GWAS dataset (OR = 1.3221, P = 0.0089). Each variant basically conferred consistent OR direction on gout and HUA, compared with the normouricemic control.ConclusionsOur findings support the associations of the SLC28A2 gene with the SUA level, the HUA phenotype and gout in Han Chinese.

中文翻译：

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SLC28A2基因的常见变异与汉族血清尿酸水平、高尿酸血症和痛风有关

背景血清尿酸（SUA）、高尿酸血症（HUA）和痛风是具有较高遗传力的复杂性状。本研究旨在确定候选基因 SLC28A2 是否对汉族人群的 SUA 波动和 HUA 和痛风的发病率具有敏感性。结果 1376 名痛风患者、1290 名长期 HUA 受试者（无痛风发作）和 1349 名三组样本本研究招募了正常尿酸对照。使用连接酶检测反应-聚合酶链反应 (LDR-PCR) 技术对 SLC28A2 基因中的 8 个多态性进行基因分型。Rs16941238 显示出与 SUA 水平（次要等位基因“A”，BETA = - 13.84 μmol/L，P = 0.0041，Pperm = 0.0042）和 HUA（OR = 0.7734，P = 0.0033，Pperm = 0.0020）最显着的关联，但不是痛风（OR = 0.8801，P = 0.1315，Pperm = 0.1491）。Rs2271437 与痛风显着相关（次要等位基因“G”，OR = 1.387，P = 0.0277，Pperm = 0.0288），并在先前发表的痛风 GWAS 数据集的荟萃分析中得到进一步证实（OR = 1.3221，P = 0.0089 ）。与正常尿酸对照相比，每个变异对痛风和HUA的OR方向基本一致。结论我们的研究结果支持SLC28A2基因与汉族SUA水平、HUA表型和痛风的关联。