Association of high altitude hypertension with angiotensin converting enzyme (ACE) gene insertion/ deletion polymorphism

A summary of dissertation work I performed during Masters course.

An insertion-deletion polymorphism of human angiotensin-I converting enzyme (ACE) gene, been identified as a major component of Renin-angiotensin system. The association of ACE gene deletion (D) allele, has been reported with essential hypertension in many population-based studies. However, many studies have also failed to detect such associations. It has been suggested the inconsistencies prevailed due to a background, genetic structure and family history differences.  The association of ACE I/D polymorphism has been investigated among 98 individuals; 49 hypertensive from high altitude and 49 normotensives from low altitude, males and females included. The deletion (DD) genotype, associated with hypertension and insertion (II) genotype, associated with normotensives. The allele and the gene frequencies among the three (DD, II, ID) ACE I/D variants have been not found significantly associated with high altitude hypertension. Whereas, in the overall population, the mean SBP and DBP has been high in DD subjects and least in II subjects.

The study analysis suggested the ACE gene polymorphism has not been a major influence on the susceptibility of elevating blood pressure phenotype and high altitude. However, the study has been carried on a small sample size. Despite this fact, the findings which have been observed, in the homogeneous population-based study, cannot be ignored.

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