Association study of SLC22A12 gene rs893006 and SLC2A9 gene rs11942223 with hyperuricemia
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摘要: 目的 探讨rs893006和rs11942223位点与高尿酸血症的关系,为高尿酸血症的群体遗传学研究以及防治提供依据。方法 在某体检机构确定364例高尿酸血症患者为病例组,按性别、民族、年龄进行1:1匹配,选择364例健康个体为对照组,采用Sequenom Mass ARRAY iPLEX GOLD技术检测两组中单核苷酸多态性,通过多因子降维法(multifactor dimensionality reduction,MDR)分析基因位点和体质指数(body mass index,BMI)的交互作用。结果 病例组的肌酐、总胆固醇、甘油三酯、收缩压和BMI较对照组高,差异均有统计学意义(均有P<0.05)。在男性中,rs893006位点基因型频率和等位基因频率在两组中的差异均有统计学意义(χ12=6.372,P=0.041;χ22=4.935,P=0.026);在男性不同遗传模型中,rs893006位点的G等位基因为保护因素,携带GG+GT基因型发生高尿酸血症的风险是TT基因型的0.405倍。采用MDR分析表明:BMI和rs893006及rs11942223位点之间可能存在较弱的协同作用,rs893006和rs11942223位点可能存在明显的拮抗作用,携带高危基因型群体发生高尿酸血症的风险是低危基因型群体的1.99倍(χ2=12.499,P<0.001)。结论 rs893006位点基因的多态性与男性高尿酸血症的发病有关联,位点rs893006和rs11942223与BMI之间存在交互作用。Abstract: Objective To explore the association of SLC22A12 gene rs893006 and SLC2A9 gene rs11942223 with hyperuricemia and provide the evidences for the population genetics research and hyperuricemia prevention and treatment. Methods 364 subjects were selected in a certain medical institution as case group, meanwhile, 364 subjects were selected as control group matching for the gender, ethnicity and age. Sequenom Mass ARRAY iPLEX GOLD technology was used to analyze the single nucleotide polymorphisms (SNPs) site genotype of case and control groups, multifactor dimensionality reduction (MDR) was used to analyze the interaction relationship between genetic polymorphisms of rs893006, rs11942223 and body mass index (BMI) in hyperuricemia population. Results The creatinine, total cholesterol, triglyceride, systolic blood pressure and BMI of case group were and allele frequency higher than control, there were significant difference in two groups (all P<0.05). rs893006 SNPs site genotype frequency and allele frequency were significantly different in two groups among male (χ12=6.372, P=0.041;χ22=4.935,P=0.026). In the different genetic model of male group, G allele of rs893006 SNP site was a protective factor, the hyperuricemia incidence of GT and GG carriers was 0.405 times than TT carrier. The interaction analysis between genes and BMI showed weak synergy effect between rs893006, rs11942223 and BMI, while an obvious antagonistic effect existed between rs893006 and rs11942223, high-risk genotype carriers had higher risk for hyperuricemia than low-risk genotype (OR=1.99, χ2=12.499,P<0.001). Conclusions SLC22A12 gene rs893006 SNP site was associated with the incidence of hyperuricemia in male group. There was an interaction effect between rs893006, rs11942223 and BMI.
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Key words:
- Hyperuricemia /
- Polymorphisms, genetic /
- Epidemiologic methods
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