维吾尔族高尿酸血症患者SLC17A1基因多态性及与饮酒的交互作用

Polymorphisms of SLC17A1 gene and their interaction with alcohol drinking among Uygur patients with hyperuricemia

目的探讨尿酸转运相关基因SLC17A1的多态性与高尿酸血症的相关性，揭示该基因多态性和饮酒在新疆维吾尔族人群高尿酸血症发生发展中的作用。方法采用病例一对照研究的方法，收集维吾尔族高尿酸血症患者1036例及对照1031名，采用Sequenom MassARRAY SNP技术检测高尿酸血症（hyperuricemia，HUA）组及对照组的SLC17A1基因2个单核苷酸多态（single nucleotide polymerphism，SNP）位点（rs9467596和rs2096386）及与高尿酸血症的关联。采用叉生分析法分析SLC17A1基因突变与饮酒的交互作用对尿酸的影响。结果对SLC17A1基因2个位点的基因型和等位基因在高尿酸组和对照组间的比较发现，rs9467596位点的CT基因型具有较高的高尿酸血症发病风险（OR=1．334，95％CI：1．082～1．644），rs2096386位点TC基因型具有较高的高尿酸血症发病风险（OR=1．242，95％CI：1．015～1．519）。叉生分析表明SLC17A1-rs2096386（ORint=1．21，P〈0．05）和饮酒交互作用OR〉1，表明有相乘模型的正交互作用。结论SLC17A1基因的rs9467596、rs2096386位点单核苷酸多态可能和维吾尔族高尿酸血症有关联，并和饮酒有交互作用。

Objective To investigate the correlation between polymorphisms of uric acid transporter related gene SLC17A1 and hyperuricemia （HUA） among ethnic Uygur patients from Xinjiang. Methods A case-control study was carried out, which enrolled 1036 patients with hyperuricemia and 1031 healthy controls. Two single nucleotide polymorphisms （SNPs） of the SLC17A1 gene were determined with Sequenom MassARRAY. Crossover analysis was used to assess the effect of interaction between above SNPs and alcohol drinking on uric acid level. Results Genotypic and allelic frequencies of the SLC17A1 gene at the two loci in the two groups were compared. The CT genotype of the rs9467596 locus and TC genotype of the rs2096386 locus showed a higher risk for hyperuricemia （OR= 1. 334, 95%CI： 1. 082- 1.644; OR= 1. 242, 95% CI： 1. 015-1. 519, respectively）. Crossover analysis also revealed that the SLC17A1 rs2096386 polymorphism has a positive interaction with alcohol drinking in a multiplication model （ORint：1. 21, P〈0.05, OR〉1）. Conclusion SNP rs9467596 and rs2096386 of the SLCI7A1 gene may have a correlation between hyperuricemia and alcohol drinking among Uygur patients.