الفهرس 
Study of the Role of Endothelial Nitric Oxide Synthase Gene 4a/b Polymorphism and Its Interaction with eNOS G894T Variants in Type-2 Diabetes Mellitus: Modifying the Risk of Diabetic Nephropathy in Egypt
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Abstract
Studies from different parts of the world have given controversial results regarding the association of eNOS gene variation with T2DM and DN. 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: modifying the risk of diabetic nephropathy. This study was conducted on a total number of 120 subjects they were divided into three groups (fourty type-2 diabetic patients without nephropathy, 40 type-2 diabetic patients with nephropathy and 40 age and sex matched normal subjects serve as control). 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 polymorpism, was performed by PCR amplification of the target genes followed by allele specific restriction enzyme digestion (PCR-RFLP). No statistical significant association was found neither between the different studied groups and mutant genotypes (p>0.05) nor mutant alleles(p>0.05).. it was found that; individuals with eNOS intron-4 polymorphism were 0.9 times more likely to develop nephropathy (type-2 DM without nephropathy and type-2 DM with nephropathy), when compared to normal control subjects it was 1.49 times more likely to develop nephropathy. Individuals with eNOS (G-894T) mutation were 0.11 times more likely to develop nephropathy (type-2 DM without nephropathy and type-2 DM with nephropathy), when compared to normal control subjects it were 1.36 times more likely to develop nephropathy. Thepresent study indicates the absence of association between eNOS 4a/b variants and the risk of developing type-2 DM and DN and suggests a role of ethnicity and genetic background for susceptibility to diabetes and its complications even within the same country. 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 alleles