缓激肽β_2受体基因启动子区-58T/C多态性与哈萨克族人原发性高血压的相关性分析

Association of Genetic Variants in the Promoter Region of the β_2 Bradykinin Receptor Gene and Essential Hypertension in Kazakans of Xinjiang

目的探讨在新疆哈萨克民族中缓激肽β2受体基因启动子区-58位基因多态性与原发性高血压的关系。方法运用聚合酶链反应-单链构象多态性分析(PCR-SSCP)、克隆测序等方法,对354例收缩压≥140mmHg和(或)舒张压≥90mmHg的原发性高血压哈萨克族患者和216例年龄、性别、族别相匹配的血压<140/90mmHg的正常血压者,分别进行缓激肽β2受体基因启动子区-58位基因多态性检测,观察不同基因型和等位基因频率在高血压患者组和正常血压对照组中的分布。结果新疆哈萨克族人缓激肽β2受体基因启动子区-58位存在TT、CC、TC3种基因型,各基因型在原发性高血压患者组和正常血压对照组的分布频率分别为0·29、0·29,0·15、0·22,0·56、0·49。T、C两种等位基因的分布频率分别为0·53、0·47和0·57、0·43。3种基因型和等位基因频率分布在两组间无统计学差异。结论新疆哈萨克族人缓激肽β2受体基因启动子区-58位基因多态性可能与哈萨克族人原发性高血压不相关。

Objective To investigate the association between the genetic variants in the promoter region of bradykinin β2receptor gene and the essential hypertension in Kazakans of Xinjiang. Method A total of 354 hypertensive patients （SBP ≥ 140 mmHg and/or DBP ≥ 90 mmHg） and 216 normotensive controls （ BP 〈 140/90 mmHg） controlled for age, sex, nationality from Kazakans of Xinjiang were studied. The genetic variants was measured by PCR-SSCP, cloned and sequenced in hypertensive patients and normotensive controls respectively. Result Three genotypes （TT, CC, TC） were detected and the distribution frequencies of genotypes TT, CC, TC were 0, 29, 0. 15, 0.56 and 0.29, 0.22, 0.49 in hypertensive group and normotensive group respectively. The distribution frequencies of T and C allele were 0.57, 0.43 in hypertensive patients and 0.53, 0.47 in controls respectively. Both of genotypes and allele frequencies showed no significant differences between the two groups. Conclusion The -58T/C polymorphism in the promoter region of bradykinin β2 receptor gene in Kazakans of Xinjiang may not be associated with essential hypertension.