β_2肾上腺素能受体基因Gln27Glu多态性与新疆哈萨克族原发性高血压的相关研究

The relationship between the Gln27 Glu polymorphism of β_2-adrenergic receptor gene and essential hypertension in Kazaks of Sinkiang

目的研究新疆哈萨克族人β2肾上腺素能受体(β2AR)基因Gln27Glu多态性与原发性高血压(EH)的关系,旨在从分子水平探讨哈萨克族人EH易感的机制。方法采用人群为基础的病例对照研究方法,选择600例30～60岁(373例EH患者与227例血压正常者)哈萨克族人为研究对象,采集外周血,采用经典蛋白酶K消化、饱和酚/氯仿抽提法提取外周血白细胞基因组DNA,应用聚合酶链反应限制性片段长度多态性分析技术,检测所有对象的Gln27Glu基因型。观察该多态性的分布特征。结果该人群β2AR基因Gln27Glu位点的3种基因型Gln/Gln、Gln/Glu、Glu/Glu分布频率分别为52.00%、42.00%、6.00%,符合HardyWeinberg平衡(P>0.05)。3种基因型的频率在EH组中分别为50.67%,43.70%,5.63%;在正常血压组中为54.19%,39.21%,6.60%,等位基因C、G分布频率分别为72.52%、27.48%和73.79%、26.21%,两组基因型及等位基因频率的分布均差异无统计学意义(P>0.05)。各基因型间年龄、体质指数、收缩压以及舒张压亦差异无统计学意义(P>0.05)。结论未发现新疆哈萨克族人β2AR基因Gln27Glu多态性与EH相关关系,提示该多态性在哈萨克族人EH的发病机制中可能不起主要作用。

Objective:To investigate the relationship between the Gln27Glu(79C/G) polymorphism of β_2-AR gene and essential hypertension in Kazaks of Sinkiang. Method:We recruited 600 Kazaks subjects (373 hypertensives and 227 normotensives ,30-60 years old) from the pastoral areas in Xinjiang in this population-based case-control study. Samples of peripheral blood were collected from all recruited subjects. The DNA was extracted by means of a standard phenol-chloroform method. β_2-AR genetype was identified by polymerase chain reaction-restriction fragment length polymorphism in all the subjects. Frequencies of genotype distribution between hypertensives and normotensives were studied. Result:In the groups, Frequencies of the genetype Gln/Gln, Gln/Glu, Glu/Glu were separately 52.00 % (312), 42. 00%(252), 6.00%(36),the allelic frequencies were in Hardy-Weinberg equilibrium ( P > 0.05 ). These three genotype frequencies were 50.67%, 43.70%, 5.63% respectively in essential hypertensives, While 54.19%,39.21%,6.60% in normotensives. The allelic frequencies of C,G were 72.52%,27.48% and 73.79% ,26.21% in two groups,no significant differences were found ( P > 0.05 ). In addition,age,body mass index, systolic blood pressure and diastolic blood pressure had no significant difference in the groups classified according to genotypes( P > 0.05 ). Conclusion:Gln27Glu polymorphism of β_2-AR gene was not related with essential hypertension, which implicates it may not play an major role in the pathogenesis of hypertension in Kazaks of Sinkiang.