Association of the ACE-II genotype with the risk of nephrotic syndrome in Pakistani children |
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Authors: | Shahid Saba Abid Aiysha Mehdi Syed Qasim Mehdi Qasim Syed Firasat Sadaf Lanewala Ali Naqvi Syed Ali Anwar Naqvi Ali Anwar Syed Rizvi Syed Adib-ul-Hasan Rizvi Adib-ul-Hasan Syed Khaliq Shagufta |
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Affiliation: | a Centre for Human Genetics and Molecular Medicine, Sindh Institute of Urology and Transplantation, Karachi, Pakistanb Department of Pediatric Nephrology, Sindh Institute of Urology and Transplantation, Karachi, Pakistanc Department of Urology, Sindh Institute of Urology and Transplantation, Karachi, Pakistand University of Health Sciences, Lahore, Pakistan |
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Abstract: | Nephrotic syndrome is a common pediatric glomerular disease associated with heavy proteinuria. Since, the angiotensin converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism is a putative genetic risk factor for NS, in this study, ACE (I/D) polymorphism was analyzed in 268 NS and 223 control samples by a PCR-based method. The genotypic and allelic frequencies were determined and the association between ACE I/D polymorphism and NS was evaluated. The frequency distribution of the II, ID and DD genotypes was 82 (30.6%), 128 (47.8%) and 58 (21.6%) in the NS patients and 9 (4.0%), 171 (76.7%) and 43 (19.3%) in the control samples respectively. In the Pakistani pediatric NS population, the II genotypic and allelic frequencies were found to be significantly associated with the disease (OR = 6.755; C.I = 3-14.9). No significant association was found between this polymorphism and the response to standard steroid therapy. Thus, in contrast to reports from other parts of the world, the II genotype was found to be significantly associated with NS in the Indian and Malay populations and in the Pakistani population described here. To our knowledge, this is the first report from Pakistan describing the association of the ACE I/D polymorphism with pediatric NS. On the basis of these results, it is suggested that analysis of the ACE (I/D) polymorphism should be performed for the early diagnosis in the high risk NS patients in South Asia. |
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Keywords: | ACE, Angiotensin converting enzyme Ang-I, Angiotensin I Ang-II, Angiotensin II CBEC, Center for Biomedical Ethics and Culture dNTPs, Deoxy-nucleotide triphosphate ESRD, End stage renal disease FSGS, Focal segmental glomerulosclerosis HWE, Hardy-Weinberg equilibrium I/D, ACE insertion/deletion polymorphism MCD, Minimal change disease MGN, Membranous glomerulopathy NS, Nephrotic Syndrome OR, Odds ratio PCR, Polymerase chain reaction RAAS, Renin-angiotensin-aldosterone system SIUT, Sindh Institute of Urology and Transplantation SRNS, steroid resistant nephrotic syndrome SPSS, Statistical Package for Social Sciences SSNS, steroid sensitive nephrotic syndrome USA, United States of America |
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