Angiotensin Converting Enzyme Gene Polymorphism


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An insertion/deletion polymorphism in the Angiotensin Converting Enzyme (ACE) gene has been implicated in the pathogenesis of heart disease. The present cross-sectional study evaluated the ACE gene I/D polymorphism in an urban worksite cohort.

The angiotensin converting enzyme (ACE) is an important component of the Renin- Angiotensin system (RAS) involved in the regulation of blood pressure, sodium and water homeostasis. In humans, ACE converts angiotensin I to angiotensin II, a potent vasoconstrictor and degrades bradykinin, a vasodilator. These activities contribute to the regulation of blood pressure. ACE inhibitors constitute an effective therapeutic option in the management of essential hypertension.

Since the discovery of a polymorphism involving insertion/deletion of a 287 bp fragment in the intron 16 of ACE gene, numerous studies have assessed the role of this polymorphism in hypertension heart disease, stroke [6] and diabetic nephropathy. The phenotypic effects of the polymorphism on ACE enzyme activity have been reported in few studies. However, results from these studies have failed to establish a consistent role of this polymorphism as a genetic marker of cardiovascular disease.

Indian population is highly susceptible to coronary heart disease, ischemic heart disease and stroke. Conventional risk factors such as smoking, obesity, type-2 diabetes and dyslipidaemia have been implicated in the pathogenesis among Indians like Caucasians. Since there is a high familial tendency to develop cardiovascular diseases in the Indian population, studies on the role of genetic factors are important in our population.

Many case controls studies have been carried out in different parts of India. Although India is one country, there are differences in lifestyle, environment, dietary, religious and cultural habits of subjects from different regions. South Indian subjects have high incidence of type-2 diabetes and coronary artery disease, CAD while East and North Indian subjects have high incidence of stroke. Further, hospital-based studies introduce selection bias and may not represent true population sample.

Cohort studies offer a unique opportunity to identify subjects in an unbiased manner. Further work-related stress could also be a risk factor among Indians like Caucasians. Worksite represents a common environment for a major part of productive life. Hence implementing preventive measures and follow up is easy. This would offer substantial benefits to the society besides improving healthcare of the workforce.

The objective of the present study is to evaluate the I/D polymorphism in the ACE gene and its metabolic implications, in an urban worksite cohort from Mumbai, Western India.

Methodology:  Fasting blood samples from 132 subjects from a worksite in Mumbai, Western India was analysed for ACE I/D polymorphism by polymerase chain reaction along with biochemical and lipid parameters. Circulating levels of ACE activity was also determined.

Results: Among the study cohort, 33 subjects (25%) had metabolic disorders. The remaining 99 subjects without metabolic disorders could be considered healthy. These subjects had a frequency of 0.36, 0.38 and 0.26 for the I/I, I/D and D/D genotypes, respectively. The genotypic frequency of subjects with metabolic disorders was not different from that of the healthy subjects. Homozygous carriers of the ‘D’ allele exhibited two-fold higher serum ACE activity compared to homozygous carriers of the ‘I’ allele. Serum ACE activity was significantly correlated to serum total cholesterol (r=0.501, p=0.006) and triglyceride (r=0.469, p=0.012) levels in D/D carriers. Contrary to this serum ACE activity was significantly related to fasting plasma glucose levels (r=0.39, p=0.03) in the I/I homozygotes.

Conclusion: In this worksite urban Indian cohort, I/D polymorphism in the ACE gene is associated with established risk factors namely fasting serum cholesterol, triglycerides and plasma glucose levels. While the ACE activity of D/D homozygotes was predictive of total cholesterol and triglyceride levels, the ACE activity of I/I homozygotes was predictive of plasma glucose levels.

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Robert Solomon

Editorial office

Journal of Clinical and Experimental Pathology