Title: Effect of angiotensin converting enzyme gene I/D polymorphism in South Indian children with nephrotic syndrome


Authors: Aravind Selvin Kumar Ramanathan1,2, Balakrishnan Karuppiah3, Murali Vijayan4, Kamaraj Raju3, Dhivakar Mani3, Rathika Chinniah 3, Manikandan Thirunavukkarasu 4, Padma Malini Ravi3, Jeyaram Illiayaraja Krishnan5, Prabha Senguttuvan1,6


Institutions: 1Department of Pediatric Nephrology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu 600008, India; 2Department of Medical Genetics, The Tamil Nadu Dr. M.G.R. Medical University, Chennai, Tamil Nadu 600032, India; 3Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, Tamil Nadu 625021, India; 4Department of Biotechnology and Genetic Engineering, Bharathidasan University, Tiruchirappalli, Tamil Nadu 620024, India; 5Department of Clinical Research, Narayana Health City, Bangalore, Karnataka 560099, India; 6Department of Pediatric Nephrology, Dr. Mehta's Children's Hospital, Chennai, Tamil Nadu 600031, India.


Abstract: Nephrotic syndrome is one of the most common childhood kidney diseases. It is mostly found in the age group of 2 to 8 years. Around 10%–15% of nephrotic syndrome cases are non-responders of steroid treatment (SRNS). Angiotensin converting enzyme (ACE) (I/D) gene association studies are important for detecting kidney disease and herein we assessed the association of ACE (I/D) polymorphism with nephrotic syndrome in South Indian children. We recruited 260 nephrotic syndrome (162 boys and 98 girls) and 218 (140 boys and 78 girls) control subjects. ACE I/D polymorphism was analyzed by PCR using genotype allele specific primers. In ACE (I/D), we did not find significant association for the ungrouped data of nephrotic syndrome children and the control subjects. Kidney biopsies were done in 86 nephrotic syndrome cases (minimal change disease, n = 51; focal segmental glomerulosclerosis, n = 27; diffuse mesangial proliferation, n = 8). We segregated them into the minimal change disease / focal segmental glomerulosclerosis groups and observed that the ACE D allele was identified with borderline significance in cases of focal segmental glomerulosclerosis and the I allele was assessed as having very weak association in cases of minimal change disease. II genotype was weakly associated with minimal change disease. Gender specific analysis revealed weak association of ID genotype with female nephrotic syndrome in females. Dominant expression of DD genotype was observed in males with nephrotic syndrome. Our finding indicated that ACE (I/D) has moderate association with focal segmental glomerulosclerosis. However, due to the limited number of biopsy proven focal segmental glomerulosclerosis subjects enrolled, further studies are required to confirm these results.


Keywords: angiotensin converting enzyme, focal segmental glomerulosclerosis, minimal change disease, nephrotic syndrome


Full Text: JBR-2015-0095.pdf


J Biomed Res published on 13 March 2016, https://doi.org/10.7555/JBR.32.20150095