WNK4基因多态与新疆哈萨克族原发性高血压病的关系

目的 探讨WNK4基因外显子8 G1155942T多态性是否为中国新疆哈萨克族人群原发性高血压病的遗传易感因素.方法 应用TaqMan探针技术检测563例哈萨克族原发性高血压病患者和346名血压正常者的WNK4基因G1155942T位点多态性.采集静脉血测定空腹血糖(GLU)、TG和TC等生化指标.logistic回归分析各基因型和等位基因频率与新疆哈萨克族原发性高血压的关系.运用相加模型研究WNK4基因G1155942T变异与环境之间交互作用对高血压病发病的影响.结果 G1155942T位点多态性的分布符合Hardy-Weinberg平衡.G1155942T多态位点基因型频率差异有统计学意义(P=0.004),等位基因频率的分布也有统计学意义(P=0.003).多元logistic回归显示年龄、BMI、TC及G1155942T位点GT+TT基因型携带者高血压患病危险显著增高.G1155942T变异与性别之间交互作用的OR值为3.75(95%CI:1.19～11.80),与BMI之间交互作用的OR值为5.77(95%CI:1.93～17.21),与GLU之间交互作用的OR值为8.67(95%CI:1.03～72.99).结论 WNK4基因G1155942T多态与原发性高血压发病相关,T等位基因可能是哈萨克族人群高血压发病的风险因子.WNK4基因G1155942T变异与性别、BMI、GLU之间对高血压病具有正相加交互作用.

Study on the association between genetic polymorphism on WNK4 genes and essential hypertension among Kazakhs ethnic population, in Xinjiang

Objective To investigate whether G1155942T polymorphism in WNK4 gene is associated with essential hypertension in a population with Kazakhs ethnicity,in Xinjiang.Methods This study covered 563 hypertension patients and 346 normotensive controls.The variant of G1155942T was determined by the TaqMan probe real-time PCR method.Some biochemical indices such as glucose (GLU),triglyeeride (TG) and total cholesterol (TC) were also measured.All of these results were under logistic regression analysis.Addictive model was applied to assess the interactive effects between WNK4 gene G1155942T mutation and environmental factors on hypertension. Results The G1155942T polymorphism was consistent with Hardy-Weinberg expectations in both case and control groups.Genotype and allele frequencies of G1155942T were observed (P=0.004,P=0.003).Data through logistic regression analysis showed that factors as age,BMI,total cholesterol as well as the GT + TT genotype frequencies of Exon 8 G1155942T polymorphism in WNK4 were responsible for the increased risks for hypertension.Positive interactions between G1155942T mutation and gender,BMI,GLU,the OR were 3.75 (95% CI:1.19-11.80),5.77 (95% CI:1.93-17.21 ) and 8.67 (95% CI:1.03-72.99),respectively.Conclusion Our result suggested that the Exon 8 G1155942T polymorphism in WNK4 gene was associated with hypertension in the studied Kazakhs ethnic group in Xinjiang and the T allele might be the risk factor for essential hypertension.There were interactive effects between WNK4 gene G1155942T mutation,gender,BMI,and GLU.