Gupta Sumeet, Agrawal Bimal K, Goel Rajesh K, Sehajpal Prabodh K
Department of Molecular Biology and Biochemistry, Guru Nanak Dev University, Amritstar, Punjab, India.
J Emerg Trauma Shock. 2009 Sep;2(3):150-4. doi: 10.4103/0974-2700.55323.
Essential hypertension is a complex genetic disorder influenced by diverse environmental factors. Of the various physiological pathways affecting the homeostasis of blood pressure, the renin-angiotensin system (RAS) is known to play a critical role. Angiotensin-I converting enzyme (ACE) is a significant component of RAS and an insertion/deletion (I/D) polymorphism in its gene has been implicated in predisposition to hypertension.
The present study is aimed to determine the association, if any, of ACE I/D polymorphism with essential hypertension in a rural population of Haryana, India.
The blood samples were collected from the patients visiting M. M. Institute of Medical Sciences, Mullana, Haryana. DNA from the patients (106) and control (110) specimens were isolated, amplified by PCR and analyzed employing agarose gel electrophoresis.
There was no significant difference in the distribution of DD, II and I/D genotypes of ACE polymorphism in essential hypertensive patients (28.8, 25.5, and 46.2%) and their ethnically matched normal control (24.5, 30, and 45.5), respectively. The two groups also presented with very similar allelic frequencies and were also found to be in Hardy-Weinberg equilibrium.
The present study demonstrates that ACE I/D polymorphism is not a risk factor for essential hypertension in the hitherto unstudied rural population of Haryana.
原发性高血压是一种受多种环境因素影响的复杂遗传疾病。在影响血压稳态的各种生理途径中，肾素 - 血管紧张素系统（RAS）起着关键作用。血管紧张素转换酶（ACE）是RAS的重要组成部分，其基因中的插入/缺失（I/D）多态性与高血压易感性有关。
本研究旨在确定印度哈里亚纳邦农村人口中ACE I/D多态性与原发性高血压之间是否存在关联（若有）。
从哈里亚纳邦穆拉纳市MM医学科学研究所就诊的患者中采集血样。从患者（106例）和对照（110例）标本中分离DNA，通过聚合酶链反应（PCR）扩增，并采用琼脂糖凝胶电泳进行分析。
原发性高血压患者中ACE多态性的DD、II和I/D基因型分布（分别为28.8%、25.5%和46.2%）与其种族匹配的正常对照（分别为24.5%、30%和45.5%）之间无显著差异。两组的等位基因频率也非常相似，且均处于哈迪 - 温伯格平衡状态。
本研究表明，在迄今未研究过的哈里亚纳邦农村人口中，ACE I/D多态性不是原发性高血压的危险因素。
