SLC22A12基因rs893006和SLC2A9基因rs11942223位点与高尿酸血症关联性研究

发布时间：2018-07-10 12:08

本文选题：高尿酸血症 + 多态现象　；参考：《中华疾病控制杂志》2017年07期

【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 i PLEX 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P0.05)。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(X_1~2=6.372,P=0.041;X_2~2=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(X~2=12.499,P0.001)。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 investigate the relationship between rs893006 and rs11942223 loci and hyperuricemia and to provide evidence for the study of population genetics and prevention and treatment of hyperuricemia. Methods 364 patients with hyperuricemia were selected as the case group and matched at 1:1 according to sex, nationality and age. 364 healthy individuals were selected as the control group. Sequenom mass ARRAYI PLEX gold technique was used to detect the single nucleotide polymorphism in the two groups. The interaction between gene locus and body mass index (body mass) was analyzed by multi-factor dimensionality reduction method (MDR). Results the levels of creatinine, total cholesterol, triglyceride, systolic blood pressure and BMI in the case group were significantly higher than those in the control group (P0.05). There were significant differences in genotype frequency and allele frequency of rs893006 locus between the two groups (X1 / T = 6.372P = 0.041), and the G allele of rs893006 locus was used as a protective factor in different male genetic models, and there was no significant difference between the two groups in the genotype frequency and allele frequency of rs893006 locus (P < 0.05), and the G allele of rs893006 locus was found to be a protective factor in different male genetic models. The risk of hyperuricemia with GG GT genotype was 0.405 times higher than that with TT genotype. The results of MDR analysis showed that there might be a weak synergistic effect between rs893006 and rs11942223 loci. Rs893006 and rs11942223 loci might have obvious antagonistic effects. The risk of hyperuricemia in high risk genotypes was 1.99 times higher than that in low-risk genotypes (X22O12.499ng, P0.001), and the risk of hyperuricemia in high risk genotypes was 1.99 times higher than that in low-risk genotypes (P 0.001). Conclusion the polymorphism of rs893006 locus gene is associated with the pathogenesis of hyperuricemia in men, and there is interaction between rs893006 and rs11942223 loci.
【作者单位】：宁夏医科大学公共卫生与管理学院流行病与卫生统计学系;
【基金】：宁夏高等学校科学技术研究项目(NGY2014087)
【分类号】：R589.7

【参考文献】