Abstract
Objective The transport and excretion of uric acid play significant role in occurrence of hyperuricemia. The correlation between polymorphism of the gene(SLC16A9)and the occurrence of hyperuricemia was explored in this study. Methods Case-control study was used in this research in which 1 026 patients with hyperuricemia were collected in the hospital, while 1 031 control cases were selected from regular medical check-ups. Sequenom MassARRAY® SNP was utilized in both hyperuricemia and control groups to detect the correlation between 4 SNP sites of SLC16A9 mutation related to uric acid excretion in order to analyze the association between gene mutation and hyperuricemia among Uyghur. Results In males, blood uric acid has a positive association with body mass index, waist circumferences, fasting blood glucose(r=0.140, 0.237, 0.084, all P 0.05). As compared with GG genotype, AG heterozygote has a high risk(OR=1.991, 95%CI 1.032-3.842, P<0.01). More importantly, rs4948351 stie revealed that TT and CT also had a higher risk(OR=1.453, 95%CI 1.079-1.957; OR=1.353, 95%CI 1.007-1.818), and there was a significant difference between two groups(P=0.034), suggesting that rs1171614 and rs4948351 associated with hyperuricemia. Conclusion The study further confirms the relationship between the SLC16A9 gene and the pathogenesis of hyperuricemia. (Chin J Endocrinol Metab, 2016, 32: 743-748) Key words: Hyperuricemia; Gene polymorphism; SLC16A9; Uric acid transporter gene; Uygur
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