الفهرس 
Study of the association of manganese superoxide dismutase gene polymorphism (rs4880) with diabetic retinopathy in a cohort of type II diabetic Egyptian patients
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Abstract
Background:In diabetic retinopathy (DR), the vascular endothelium is damaged due tooxidative stress and inflammation. Manganese superoxide dismutase (MnSOD) is one of the most important enzymesresponsible for the defense against oxidative damage in the mitochondria. A polymorphism in the second exon of theMnSOD gene at 16th amino acid (Ala16Val) in the mitochondrial targeting sequence(MTS) of the protein has been linked to several diseases including DR.This polymorphism affects the scavenger activity of the enzyme andgenerates high reactive oxygen species which could exacerbatethe development of DR. This study aims to investigate the association between Ala16Val MnSODgene polymorphism and the susceptibility to DR in type 2 diabetes patients. Subjects and Methods:150 unrelated patients with type 2 diabetes mellitus were enrolled: 100 patients with diabetic retinopathy (proliferative and non-proliferative) with and without Diabetic Macular Edema(DME) and 50 subjects control group with type 2 diabetes of duration of10yearsandmore who had no clinical signs of diabetic retinopathy.Ala16Val SNP ofMn SOD gene (rs4880) was detected by Taqman real time PCR. Results:No statistically significant difference was found in different genotypes frequency betweenthe DR (-) and DR (+) groups (p=0.3), norbetween the stages ofDR (P=0.245). But in the DR (+) group, the DME (+) group had a higher VV frequency than that of the DME (-) group (P=0.018).Diabetic duration, and insulin therapy were related to DR. Conclusion:Ala16Valpolymorphism ofMn SOD geneis associated with Diabetic Macular Edema (DME) in type 2 diabetes patients butthere is no association between this polymorphism and diabetic retinopathy