Association of SOD1 Gene Promotor 50 bp Indel Polymorphism with Susceptibility of Type 2 Diabetes Mellitus

Authors: Kafeel S, Hashim Z, Fawwad A and Nawab SN*

DOI: 10.23880/doij-16000259

Volume 7, Issue 3

Abstract

Introduction: Oxidative stress plays an essential role in the pathogenesis of type 2 diabetes mellitus (T2DM). An antioxidant enzyme superoxide dismutase 1 (SOD1) dissociates free superoxide radicals and provides protection against oxidative damage. The aim of this study was to investigate the role of promotor region 50 bp Indel SOD1 polymorphism with the pathogenesis of type 2 diabetic mellitus among Pakistani population. Materials and Methods: This was a case-control study comprised of n=359 subjects, divided into n=178 type 2 diabetic patients and n=181 controls. Screening of SOD1 promotor 50 bp Indel polymorphism was carried out by conventional polymerase chain reaction (PCR). Statistical interpretations were done by software SPSS® version 20.0 and SNPStats©. Results: Genotype distribution pattern of SOD1 polymorphism indicated that homozygous mutant D/D genotype frequency was two folds reduced in T2DM (0.01) in comparison to controls population (0.02). Heterozygous I/D genotype frequency was higher in T2DM subjects (0.22) as compared to controls (0.17). An insignificant association of SOD1 polymorphism was detected with predisposition of T2DM (OR=1.14, Fisher’s exact=2.0, p=0.325). Genetic analysis further revealed that dominant model showed significant association against the pathogenicity of disease (OR=0.45, p

Keywords: SOD1; Polymorphism; Type 2 diabetes mellitus; Dominant model; Defensive response

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