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首页> 外文期刊>Journal of atherosclerosis and thrombosis. >Genetic Impact on Uric Acid Concentration and Hyperuricemia in the Japanese Population
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Genetic Impact on Uric Acid Concentration and Hyperuricemia in the Japanese Population

机译:遗传对日本人群尿酸浓度和高尿酸血症的影响

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Aim: Using general Japanese populations, we performed a replication study of genetic loci previously identified in European-descent populations as being associated with uric acid and gout. The relative contribution of non-genetic and genetic factors to the variances in serum uric acid concentration was then evaluated. Methods: Seven single nucleotide polymorphisms (SNPs) were genotyped from 7 candidate loci robustly confirmed in Europeans. Genotyping was performed in up to 17,226 individuals, from which 237 hyperuricemia cases and 3,218 controls were chosen for a case-control study. For 6 SNPs showing a replication of uric acid association in 17,076 general population samples, we further tested the associations with other metabolic traits ( n ≤5,745) and with type 2 diabetes (931 cases and 1404 controls) and coronary artery disease (806 cases and 1337 controls). Results: Significant uric acid associations (one-tailed p ?50) and ABCG2 rs2231142 for hyperuricemia ( p 3.6×10?10). The combined genetic effect could explain some proportion of inter-individual variation in uric acid ( R 2=0.03) and was more or less comparable to the effect of well-recognized risk factors ?BMI ( R 2=0.04) and alcohol intake ( R 2=0.01). The tested SNPs were not significantly associated with cardiovascular risk traits except for GCKR rs780094. Conclusion: Our results confirm that 6 common uric acid variant loci are reproducible in Japanese. Further investigation is warranted to efficiently use the knowledge about genetic factors in combination with modifiable risk factors when we decide an individual’s treatment strategy for hyperuricemia.
机译:目的:使用日本普通人群,对以前在欧洲血统人群中鉴定为与尿酸和痛风有关的遗传基因座进行了复制研究。然后评估了非遗传因素和遗传因素对血清尿酸浓度变化的相对贡献。方法:从欧洲人中得到可靠证实的7个候选基因座进行7个单核苷酸多态性(SNP)基因分型。基因分型在多达17,226个人中进行,其中从237个高尿酸血症病例和3,218个对照中选择了一个病例对照研究。对于在17,076个普通人群样本中显示尿酸关联复制的6个SNP,我们进一步测试了与其他代谢性状(n≤5,745)和2型糖尿病(931例和1404例对照)和冠状动脉疾病(806例和1337个控件)。结果:高尿酸血症与尿酸显着相关(单尾p≥50)和ABCG2 rs2231142(p 3.6×10 ≥10)。组合的遗传效应可以解释个体间尿酸变异的某些比例(R 2 = 0.03),并且与公认的危险因素?BMI的效应大致相当(R 2 = 0.04)和酒精摄入量(R 2 = 0.01)。除GCKR rs780094外,受测的SNP与心血管危险性状没有显着相关。结论:我们的结果证实了6种常见的尿酸变异基因座在日语中可重现。当我们决定个人的高尿酸血症治疗策略时,有必要进行进一步的调查,以有效地利用有关遗传因素的知识以及可调整的危险因素。

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