title: Association between angiotensin-converting enzyme insertion/deletion gene polymorphism and end-stage renal disease in lebanese patients with diabetic nephropathy.
abstract: Diabetic nephropathy (DN) is one of the leading causes of end-stage renal disease (ESRD). The development and progression of nephropathy is strongly determined by genetic factors, and few genes have been shown to contribute to DN. An insertion/deletion (I/D) polymorphism of the gene encoding angiotensin-converting enzyme (ACE) was reported as a candidate gene predisposing to DN and ESRD. Accordingly, we investigated the frequency of ACE I/D polymorphism in 50 patients with DN, of whom 33 had ESRD and compared them with 64 patients with type 2 diabetes mellitus (T2DM) but with normal renal function. Polymerase chain reaction amplification, using specific primers, was performed to genotype ACE I/D. Chi-square test was used to assess the differences between the groups. The frequencies of the ACE genotypes were as follows: 48% D/D, 40% I/D, and 12% I/I in patients with DN in contrast to 32.8% D/D, 45.3% I/D, and 21.9% I/I in T2DM. The distribution of the D/D, D/I, and I/I genotypes did not significantly differ between T2DM and DN. However, having the D allele carried a risk for the development of DN [odds ratio (OD), 1.71, P = 0.054]. On the other hand, the distribution of the D/D, D/I, and I/I genotypes was significantly different between T2DM and ESRD patients, χ2 = 7.23, P = 0.027. This was reflected by the D allele which carried a risk for the development of ESRD (OR, 2.51, P = 0.0057). These findings suggest that the D allele may be considered as a risk factor for both the development of DN and the progression of DN to ESRD in Lebanese population with T2DM.
authors.affiliation: Department of Biological and Environmental Sciences, Faculty of Science, Beirut Arab University, Beirut, Lebanon.
authors.forename: Sarah
authors.initials: S
authors.lastname: Fawwaz
authors.affiliation: Department of Biochemistry, Faculty of Science, Alexandria University, Alexandria, Egypt.
authors.forename: Mahmoud
authors.initials: M
authors.lastname: Balbaa
authors.affiliation: Department of Biochemistry and Molecular Medicine, College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
authors.forename: Hana
authors.initials: H
authors.lastname: Fakhoury
authors.affiliation: Department of Biological and Environmental Sciences, Faculty of Science, Beirut Arab University, Beirut, Lebanon.
authors.forename: Jamila
authors.initials: J
authors.lastname: Borjac
authors.affiliation: Faculty of Health Sciences, Beirut Arab University, Beirut, Lebanon.
authors.forename: Rajaa
authors.initials: R
authors.lastname: Fakhoury
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology; D003928:Diabetic Nephropathies / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000201:enzymology / Q000453:epidemiology / Q000235:genetics*; D007861:Lebanon / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D011110:Polymorphism, Genetic; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A