URAT1基因多态性与哈萨克族人群高尿酸血症发病影响因素的交互作用  

Interaction between polymorphisms of URAT1 gene and influence factors of HUA in Kazak population

作　　者：李瑞[1] 秦丽岩[2] 姚华[3] 张蓓[1] 苗蕾[4] 刘璐[4] 孙玉萍[1] LI Rui;QIN Liyan;YAO Hua;ZHANG Bei;MIAO Lei;LIU Lu;SUN Yuping(Xinjiang Medical University,Urumqi 830011,China)

机构地区：[1]新疆医科大学基础医学院,乌鲁木齐830011 [2]新疆医科大学第六附属医院 [3]新疆医科大学第一附属医院 [4]新疆医科大学公共卫生学院

出　　处：《山东医药》2018年第30期5-8,共4页Shandong Medical Journal

基　　金：国家自然科学基金资助项目(81460153;81560153);新疆维吾尔自治区自然科学基金资助项目(2015211C014)

摘　　要：目的探讨人尿酸盐转运子(URAT1)基因rs524023位点基因多态性与哈萨克族高尿酸血症(HUA)发病影响因素间的交互作用。方法选取符合纳入标准的哈萨克族194例HUA患者和841例不合并HUA者作为研究对象,收集一般资料及血液标本后,检测一般生化指标及URAT1基因rs524023位点多态性。运用遗传模型(加性模型、显性模型和隐性模型)分析URAT1基因多态性与哈萨克族HUA的关联;采用多因素Logistic回归分析URAT1基因多态性与HUA影响因素间的交互作用。结果年龄(OR=1.02,95%CI=1.01~1.04)、慢性肾脏病(OR=5.99,95%CI=3.01~11.26)和高甘油三酯血症(OR=3.61,95%CI=2.49~5.24)为哈萨克族HUA的危险因素,而女性(OR=0.44,95%CI=0.31~0.62)为哈萨克族HUA的保护因素。遗传模型分析发现,TC、TT和TT+TC基因型相对于CC基因型表现为哈萨克族HUA的危险因素(OR>1,95%CI不跨1)。交互作用结果显示,女性携带rs524023位点突变表现为哈萨克族HUA的保护因素(P<0.05,OR'=0.16);慢性肾脏病患者携带rs524023位点突变可增加哈萨克族HUA的患病风险(P<0.05,OR'=2.12)。结论 URAT1基因rs524023位点突变可能增加哈萨克族HUA的易感性,且与性别、慢性肾脏病间存在交互作用。Objective To analyze the interaction between rs524023 locus gene polymorphism of human urate transporter 1（ URAT1） gene and the influences factors of hyperuricemia（ HUA） in Kazak population. Methods We selected194 Kazak HUA patients as the case group and 841 Kazak people without HUA as the control group,and collected the general data and the blood sample to detect the general biochemical indicators and the rs524023 locus polymorphism of URAT1 gene. We used the genetic models（ additive model,dominant model,and recessive model） to analyze the association between the URAT1 gene polymorphism and HUA in Kazak population. The interaction between the URAT1 gene polymorphism and the influence factors of HUA in Kazak was analyzed by multi-factor Logistics regression. Results Age（ OR =1. 02,95% CI： 1. 01-1. 04）,chronic kidney disease（ OR = 5. 99,95% CI： 3. 01-11. 26）,and hypertriglyceridemia（ OR= 3. 61,95% CI： 2. 49-5. 24） were risk factors for HUA in Kazak,but being female（ OR = 0. 44,95% CI： 0. 31-0. 62）was the protective factor of Kazak HUA. TC,TT,and TT ＋ TC genotypes of URAT1 gene rs524023 polymorphism increased the risk of Kazak HUA as compared with CC genotype（ OR〉1）. Females who had rs524023 locus mutation decreased the risk of HUA（ P〈0. 05,OR＇ = 0. 16,S =-0. 04）. The chronic kidney disease patients with rs524023 locus mutation increased the risk of HUA（ P〈0. 05,OR＇ = 2. 12）. Conclusion URAT1 gene rs524023 locus mutation can increase the susceptibility to HUA in Kazak,and has interaction with gender and chronic kidney disease.

关 键 词：人尿酸盐转运子基因 单核苷酸基因多态性 哈萨克族 高尿酸血症 交互作用 

分 类 号：R589.7[医药卫生—内分泌]