WNK4基因C1155547T多态与新疆哈萨克族原发性高血压的关系

Association of the Cl155547T polymorphism in WNK4 gene with essential hypertension in Xinjiang Kazakhs

目的 探讨WNK4基因第7外显子C1155547T变异是否与中国新疆哈萨克族人群原发性高血压相关,及该变异与环境之间交互作用对高血压病的影响.方法 应用Taqman探针技术检测556例哈萨克族原发性高血压病患者和341名血压正常者的WNK4基因C1155547T位点多态性.采用多元Logistic回归法分析该基因变异和其他危险因素对高血压的作用;运用相加模型研究WNK4基因C1155547T变异与环境之间交互作用对高血压病发病的影响.结果 C1155547T位点多态性的分布符合Hardy-Weinberg平衡.C1155547T多态位点基因型频率差异有统计学意义（P=0.003）,T等基因频率在高血压组中显著高于正常对照组（P=0.002）.多元Logistic回归模型分析发现年龄、体重指数、总胆固醇及C1155547T变异可能是高血压的危险因素.C1155547T变异与性别之间交互作用的OR值为3.85（95%CI：1.23～12.04）;与体重指数之间交互作用的OR值为5.91（95%CI：1.99～17.57）;与空腹血糖之间交互作用的OR值为8.77（95%CI：1.04～73.93）.结论 WNK4基因C1155547T多态与原发性高血压发病可能相关,T等位基因可能是该民族原发性高血压发生的危险因子.WNK4基因C1155547T变异与性别、体重指数、空腹血糖之间对高血压病具有正相加交互作用.

Objective To investigate whether the WNK lysine deficient protein kinase 4 （WNK4） gene C1155547T polymorphism is associated with essential hypertension （EH） in Xinjiang Kazakhs and to assess the effect of the interaction between this polymorphism and environment factors on EH. Methods The studycovered 556 hypertension patients and 341 normotensive controls. The C1155547T was determined by Taqman probe real-time PCR method. Some biochemical index such as glucose, triglyceride and total cholesterol were also measured. All of these results were analyzed with Logistic regression analysis. Additive model was applied to assess the effect of interaction between the WNK4 gene C1155547T polymorphism and environment factors on hypertension. Results The C1155547T polymorphism was consistent with Hardy-Weinberg equilibrium in both the case and control groups. There was significant difference in the genotype frequencies （P= 0. 003）. The T allele frequency was significantly higher in the patient group （P= 0.002）. Logistic regression analysis revealed that the age, body mass index（BMI）, total cholesterol as well as the CT＋TT genotype frequency conferred increased risks for EH. Positive interaction between the C1155547T polymorphism and gender, BMI, glucose was observed. The ORs were 3.85 （95% CI：1. 23-12.04）, 5. 91 （95% CI：1.99-17.57） and 8.77 （95%CI：1.04-73.93）, respectively. Conclusion The result suggested that the exon 7 C1155547T polymorphism in WNK4 gene might be associated with EH in Xinjiang Kazakhs, the T allele might be the risk factor of essential hypertension. There were interactive effects between the WNK4 gene C1155547T polymorphism and gender, BMI and glucose.