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首页> 外文期刊>BMC Medical Genetics >Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study
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Polymorphisms in GCKR, SLC17A1 and SLC22A12 were associated with phenotype gout in Han Chinese males: a case–control study

机译：GCKR，SLC17A1和SLC22A12基因多态性与汉族男性痛风表型相关：病例对照研究

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Background Gout is a common arthritic disease resulting from elevated serum uric acid (SUA) level. A large meta-analysis including 28,141 individuals identified nine single nucleotide polymorphisms (SNPs) associated with altered SUA level in a Caucasian population. However, raised SUA level alone is not sufficient for the development of gout arthritis and most of these SNPs have not been studied in a Han Chinese population. Here, we performed a case–control association analysis to investigate the relationship between these SUA correlated SNPs and gout arthritis in Han Chinese. Methods A total of 622 ascertained gout p9atients and 917 healthy controls were genotyped. Genome-wide significant SNPs, rs12129861, rs780094, rs734553, rs742132, rs1183201, rs12356193, rs17300741 and rs505802 in the previous SUA study, were selected for our analysis. Results No deviation from the Hardy–Weinberg equilibrium was observed either in the case or control cohorts (corrected p?>?0.05). Three SNPs, rs780094 (located in GCKR, corrected p?=?1.78E ?4 , OR?=?0.723), rs1183201 (located in SLC17A1, corrected p?=?1.39E ?7 , OR?=?0.572) and rs505802 (located in SLC22A12, corrected p?=?0.007, OR?=?0.747), were significantly associated with gout on allelic level independent of potential cofounding traits. While the remaining SNPs were not replicated. We also found significant associations of uric acid concentrations with these three SNPs (rs780094 in GCKR, corrected p?=?3.94E ?5 ; rs1183201 in SLC17A1, corrected p?=?0.005; rs505802 in SLC22A12, corrected p?=?0.003) and of triglycerides with rs780094 (located in GCKR, corrected p?=?2.96E ?4 ). Unfortunately, SNP-SNP interactions for these three significant SNPs were not detected (rs780094 vs rs1183201, p?=?0.402; rs780094 vs rs505802, p?=?0.434; rs1183201 vs rs505802, p?=?0.143). Conclusions Three SUA correlated SNPs in Caucasian population, rs780094 in GCKR, rs1183201 in SLC17A1 and rs505802 in SLC22A12 were confirmed to be associated with gout arthritis and uric acid concentrations in Han Chinese males. Considering genetic differences among populations and complicated pathogenesis of gout arthritis, more validating tests in independent populations and relevant functional experiments are suggested in future.
机译：背景痛风是一种常见的关节炎疾病，是由于血清尿酸（SUA）水平升高引起的。一项包含28,141名个体的大型荟萃分析确定了高加索人群中与SUA水平改变相关的9个单核苷酸多态性（SNP）。然而，仅升高的SUA水平不足以发展痛风性关节炎，并且尚未在汉族人群中研究其中的大多数SNP。在这里，我们进行了病例对照关联分析，以调查这些SUA相关SNP与汉族痛风性关节炎之间的关系。方法对确定的622名痛风患者和917名健康对照者进行基因分型。我们在之前的SUA研究中选择了全基因组范围内的重要SNP，rs12129861，rs780094，rs734553，rs742132，rs1183201，rs12356193，rs17300741和rs505802。结果在病例组或对照组中均未观察到与Hardy-Weinberg平衡的偏差（校正后的p？>？0.05）。三个SNP，rs780094（位于GCKR中，校正后的p？=？1.78E ？4 ，或α？=？0.723），rs1183201（位于SLC17A1中，校正后的p？=？1.39E ？ 7（sup>，OR？=？0.572）和rs505802（位于SLC22A12中，更正后的p？=？0.007，OR？=？0.747）与等位基因水平上的痛风显着相关，而与潜在的共患病性状无关。而其余的SNP没有被复制。我们还发现了尿酸浓度与这三个SNP的显着相关性（GCKR中的rs780094，校正后的p？=？3.94E ？5 ; SLC17A1中的rs1183201，校正后的p？=？0.005; SLC22A12中的rs505802，校正后的p？=？0.003）和含rs780094的甘油三酸酯（位于GCKR中，校正后的p？=？2.96E ？4 ）。不幸的是，没有检测到这三个重要SNP的SNP-SNP相互作用（rs780094 vs rs1183201，p≥0.402; rs780094 vs rs505802，p≥0.434; rs1183201 vs rs505802，p≥0.143）。结论在中国汉族男性中，证实了三种与SUA相关的SNP，GCKR的rs780094，SLC17A1的rs1183201，SLC22A12的rs505802与痛风性关节炎和尿酸浓度有关。考虑到人群之间的遗传差异和痛风性关节炎的复杂发病机制，未来建议在独立人群中进行更多的验证试验和相关的功能实验。

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