Prevalence of angiotensin converting enzyme (ACE) gene insertion/deletion polymorphism in South Indian population with hypertension and chronic kidney disease

• Published in: Journal of postgraduate medicine Vol. 61; no. 4; pp. 230 - 234
• Main Authors: Shanmuganathan, R, Kumaresan, R, Giri, P
• Format: Journal Article
• Language: English
• Published: India Medknow Publications and Media Pvt. Ltd 01-10-2015; Medknow Publications & Media Pvt. Ltd; Medknow Publications & Media Pvt Ltd
• Subjects: Angiotensin converting enzyme; Antihypertensive Agents - therapeutic use; Asian Continental Ancestry Group - genetics; Chronic kidney failure; Confidence intervals; Creatinine - blood; Deoxyribonucleic acid; Disease Progression; Distribution; DNA; Enzymes; Ethics; Ethnicity; Female; Gene expression; Genetic aspects; Genetic polymorphisms; Genetic Predisposition to Disease; Genotype; Genotype & phenotype; Health aspects; Humans; Hypertension; Hypertension - drug therapy; Hypertension - ethnology; Hypertension - genetics; INDEL Mutation; Kidney diseases; Male; Middle Aged; Original; Peptidyl-Dipeptidase A - genetics; Polymerase Chain Reaction; Polymorphism, Genetic - genetics; Population; Prevalence; Renal Insufficiency, Chronic - blood; Renal Insufficiency, Chronic - ethnology; Renal Insufficiency, Chronic - genetics; Renin-Angiotensin System - genetics; Renin-Angiotensin System - physiology; Studies; India
• ISSN: 0022-3859; 0972-2823
• DOI: 10.4103/0022-3859.166510

Chronic Kidney Disease (CKD) is associated with a high risk of developing further severe complications such as, cardiovascular disease and eventually End Stage Renal Disease (ESRD) leading to death. Hypertension plays a key role in the progression of renal failure and is also a chief risk factor for the occurrence of End Stage Renal Disease (ESRD).
This study investigates the possible association of insertion (I) and deletion (D) polymorphism of ACE gene in patients of Chronic Kidney Disease (CKD) with and without hypertension (HT).
Total 120 participants with 30 members in each group (Control, HT, CKD and CKD-HT) were chosen followed by informed consent.
Blood samples were collected and subjected to biochemical analyses and nested PCR amplification was performed to genotype the DNA, for ACE I/D using specific primers.
Statistical analyses were performed using SPSS version 13. Allele and genotypic frequency was calculated by direct gene counting method. Comparison of the different genotypes was done by using Chi square test. Odd's ratios were calculated with a 95% confidence interval limit.
The ACE genotype were distributed as II, 27 (90%); DD, 2 (6.67%) and ID, 1 (3.33%) in control, II, 1 (3.33%); DD, 5 (16.67%) and ID, 24 (80%) in HT, II, 4 (13.33%); DD, 24 (80%) and ID, 2 (6.67%) in CKD and II, 0 (0%); DD, 2 (6.67%) and ID, 28 (93.33%) in CKD-HT group.
D allele of ACE gene confers a greater role in genetic variations underlying CKD and hypertension. This result suggest that CKD patients should be offered analysis for defects in ACE I/D polymorphisms, especially if they are hypertensive.