Srivastava Kamna, Sundriyal Ruchi, Meena Prakash C, Bhatia Jagriti, Narang Rajiv, Saluja Daman
Dr BR Ambedkar Centre for Biomedical Research, University of Delhi, Delhi, India.
Genet Test Mol Biomarkers. 2012 Mar;16(3):174-7. doi: 10.1089/gtmb.2011.0155. Epub 2011 Nov 21.
Essential hypertension is a multifactorial disease in which genetic and environmental factors play an important role. The renin-angiotensin system (RAS) is known to play a critical role in the homeostasis of blood pressure. 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 purpose of the current study is to investigate the association of I/D polymorphism of the ACE gene with essential hypertension in northern Indians.
Two hundred twenty-two patients with essential hypertension and 252 controls were recruited for the study. DNA samples were isolated from peripheral blood by using a kit. Polymerase chain reaction was used for genotyping.
All the genotypes and allele distribution in study subjects were in the Hardy-Weinberg equilibrium. There was a significant difference in the distribution of DD, II, and ID genotypes of ACE polymorphism in patients and controls. In the subjects having an I allele, the odds ratio is 2.08 [1.6-2.58] at 95% confidence interval, thus suggesting an association of ACE I/D gene polymorphism with essential hypertension.
Our findings suggest that the I allele of ACE I/D polymorphism is associated with essential hypertension in our population.
原发性高血压是一种多因素疾病，其中遗传和环境因素起着重要作用。已知肾素-血管紧张素系统（RAS）在血压稳态中起关键作用。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。本研究的目的是调查印度北部人群中ACE基因I/D多态性与原发性高血压的关联。
招募了222例原发性高血压患者和252例对照进行研究。使用试剂盒从外周血中分离DNA样本。采用聚合酶链反应进行基因分型。
研究对象的所有基因型和等位基因分布均处于哈迪-温伯格平衡。患者和对照中ACE多态性的DD、II和ID基因型分布存在显著差异。在具有I等位基因的受试者中，95%置信区间的优势比为2.08 [1.6 - 2.58]，因此表明ACE I/D基因多态性与原发性高血压有关。
我们的研究结果表明，ACE I/D多态性的I等位基因与我们人群中的原发性高血压有关。
