Superoxide Dismutase 1 (SOD 1) A251G Polymorphism

Abstract

Objective: A genetic polymorphism of SOD1 A251G(rs2070424) is in the 3rd intron region of the SOD gene. The aim of this study was to determine the frequencies of the polymorphisms of the SOD1 A251G in a Turkish population, including 494 healthy individuals. Methods: The 494 Turkish individuals were genotyped for polymorphisms of SOD1 gene. The distribution of SOD1 A251G polymorphisms in this population was examined using a PCR-RFLP method. Genotype and allele frequencies were estimated by counting. Hardy-Weinberg equation between expected and observed genotype distributions was assessed using the X-2 test. Results: In the present study, the distribution of SOD1 A251G polymorphisms in a Turkish population including 494 (females: 278, 56.3% and males: 216, 43.7%) healthy individuals was examined. The mean age of the study population was 38.4 +/- 16.6 years (males, 39.8 +/- 17.1; females, 37.3 +/- 16.1). The observed genotype frequencies of SOD1 A251G were 86.2, 13.4 and 0.4% for AA, AG and GG, respectively. Conclusions: This study provides basic information about the allele and genotype frequency distributions of polymorphisms in the SOD1 A251G gene studied. These frequencies may be useful parameters as a reference for future studies on genetic basis of various diseases and cancer susceptibility.