WNK4基因Ala589Ser多态在原发性高血压发病中作用的探讨  

Investigation of the role of WNK4 gene Ala589Ser polymorphism in essential hypertension

作　　者：孙志军[1] 丁茜[2] 李妍[2] 吕晶玉[2] 赵彦艳[2] 

机构地区：[1]中国医科大学附属第二医院心内科,沈阳110004 [2]中国医科大学医学遗传学教研室

出　　处：《解放军医学杂志》2006年第6期616-618,共3页Medical Journal of Chinese People's Liberation Army

基　　金：国家自然科学基金资助项目(30300204)

摘　　要：目的探讨WNK4基因Exon8Ala589Ser多态与原发性高血压的关系。方法259例原发性高血压患者和235例健康对照组人群血样应用PCRRFLP方法检测WNK4基因Exon8Ala589Ser多态,结果经测序验证,同时检测所有人群的血糖、血脂等生化指标。进一步应用Logistic回归分析各种临床生化指标及该多态与高血压的危险关系。结果原发性高血压组与健康对照组WNK4基因Exon8Ala589Ser多态基因型比较无明显差异(P>0.05),但两组等位基因频率比较具有显著性差异(P<0.05)。Logistic分析显示异常的胆固醇、低密度脂蛋白水平及WNK4基因Exon8Ala589Ser多态T等位基因携带者高血压患病危险显著增高。结论WNK4基因Exon8Ala589Ser多态与原发性高血压密切相关,T等位基因是高血压的独立危险因素,可能参与了原发性高血压的发病过程。Objective To investigate the role of WNK4 gene Exon8 Ala589Ser polymorphism in the pathogenesis of essential hypertension. Methods This study included 259 hypertensive patients and 235 normotensive patients as comrol subjects. Exon8 Ala589Ser polymorphism in WNK4 was investigated by PCR-RFLP and confirmed by direct sequencing. Genotype, genotype frequencies and allele frequencies of the polymorphism were compared among patients with essential hypertension and control subjects. At the same time, some clinical biochemical variables, such as the blood sugar and lipids in both groups. All of these results were analyzed with Logistic regression analysis to determine whether the risk of hypertension is associated with the polymorphism and the determined biochemical variables. Restilts The allele frequency of Exon8 Ala589Ser polymorphism in WNK4 in hypertensive patients was significantly higher （P〈0. 05） than that in normotensive patients. In contrast, no significant association was confirmed in the comparison of genotypes （P〈0. 05）. Binary logistic regression analysis revealed that the increased level of cholesterol and low density lipoprotein, as well as the T allele frequencies of Exon8 Ala589Ser polymorphism in WNK4 conferred increased risks for hypertension Conclusions The exon8 Ala589Ser polymorphism in WNK4 was found to be associated with essential hypertension, and T allele was an independent risk factor of hypertension, suggesting that the polymorphism in WNK4 might be involved in the onset and development of hypertension.

关 键 词：高血压 WNK4基因 多态 

分 类 号：R541[医药卫生—心血管疾病]