The Role of Endothelial Nitric Oxide Synthase Gene 4a/b Polymorphism and its Interaction with eNOSG894T Variants in Egyptian Type 2 Diabetes Mellitus as a Risk Factor to Nephropathy
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- Category: Vol. 84, December 2016
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The Role of Endothelial Nitric Oxide Synthase Gene 4a/b Polymorphism and its Interaction with eNOSG894T Variants in Egyptian Type 2 Diabetes Mellitus as a Risk Factor to Nephropathy, GHADA H. SAYED and MOHSEN KHALED
Abstract
Background: Studies from different parts of the world have given controversial results regarding the association of eNOS gene variation with T2DM and DN.
Aim of the Work: The aim of this study is to evaluate the role of eNOS 4a/b polymorphism and its interaction with eNOS G894T variants in type 2 diabetes mellitus as a risk factor to nephropathy in patients attending the outpatient clinic of National Institute of Diabetes and Endocrinology (NIDE).
Subjects and Methods: This study was conducted on a total number of 120 subjects which were subdivided into three groups Group I: Included 40 type 2 diabetic patients without nephropathy. Group II: Included 40 type 2 diabetic subjects with nephropathy. All patients are selected from the outpatient clinic of National Institute of Diabetes and Endocrinology (NIDE) Group III: Included 40 age and sex matched normal healthy subjects (as controls). In addition to the routine investigation genotyping for the intron 4a/b polymorphisms for the eNOS gene was performed by PCR amplification of the target genes while genotyping of the G-894T polymorphism was performed by PCR amplification of the target genes followed by allele specific restriction enzyme digestion (PCR-RFLP).
Results: When we compared the different studied groups we found that there was no statistical significant association between them and mutant genotypes (p>0.05) nor mutant alleles (p>0.05).It was found that; individuals with eNOS-4 polymorphism were 0.9 times more likely to develop nephr-opathy (Group I and Group II), when compared to normal control subjects it were 1.49 times more likely to develop nephropathy. Individual eNOS (G-894T) mutation were 0.11 times more likely to develop nephropathy (Group I and Group II), when compared to normal control subjects it were 1.36 times more likely to develop nephropathy.
Conclusion: It can be concluded that there was absence of association between eNOS 4a/b variants and the risk of developing type-2DM and DN.It also demonstrates that eNOS 894T allele alone does not increase the risk of developing DN and the effect is not modified by the concomitant presence of both allele.