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. Özet Amaç: SOD1 A251G (rs2070424) genetik polimorfizmi SOD geninin 3. intron bölgesinde lokalizedir. Bu çalışma 494 sağlıklı birey içeren bir Türk popülasyonunda SOD1 A251G polimorfiziminin frekanslarını belirlemeyi amaçlamıştır. Yöntemler: Bu çalışmada, 494 sağlıklı Türk bireyin SOD1 geninin polimorfizmi genotiplendi. Bu popülasyonda SOD1 A251G polimorfizmin dağılımı bir PCR-RFLP yöntemi kullanılarak incelenmiştir. Genotip ve alel frekansları sayarak elde edilmiştir. Beklenen ve gözlenen genotip dağılımları arasında Hardy-Weinberg dengesi X 2 testi kullanılarak değerlendirilmiştir. Bulgular: Bu çalışmada, SOD1 genindeki A251G polimorfizmi toplam 494 (females: 278, 56.3% and males: 216, 43.7%) Türk sağlıklı birey incelendi. Çalışma grubunun yaş ortalaması 38.4 ± 16.6 yıl (erkek, 39.8 ± 17.1; kadın, 37.3 ± 16.1) idi. SOD1 gözlenen genotip frekansları sıra-sıyla AA: % 86.2 AG: % 13.4 ve GG için % 0.4 olarak tespit edildi. Sonuç: Bu çalışma, Türk toplumunda SOD1 A251G gen polimorfizmlerinin alel ve genotip frekans dağılımları hakkında temel bilgiler sağlamıştır. Türk popülasyo-nunda SOD1 A251G polimorfizmi ile yapılan ilk çalışmadır ve önemlidir. Bu frekanslar gelecekte çeşitli hastalıklar ve kanser yatkınlığı çalışmalarında yararlı referans parametreler olabilir.

The Activity of Superoxide Dismutase, Its Relationship with the Concentration of Zinc and Copper and the Prevalence of rs2070424 Superoxide Dismutase Gene in Women with Polycystic Ovary Syndrome—Preliminary Study

“…Interestingly, we found mainly variant AA (93.3%) in the PCOS women and only 4 (6.7%) patients with genotype AG, while there are not any patients with GG genotype. A study conducted by Silig et al [14] revealed that the frequencies of AA, AG and GG genotypes in a healthy Turkish population were found to be % 86.2, % 13.4 and % 0.4 respectively. It is possible that due to a small number of patients, we did not observe any cases of GG genotype.…”

“…The variability in SOD activity and the harmful consequences of oxidative stress may be also related to intra-individual differences, presumed to be associated with singlenucleotide polymorphisms (SNP) of SOD1. One of them could be rs2070424 (A251G) of the SOD1 gene, which is located in the 3rd intron of the SOD1 gene [14]. This polymorphism could be associated with increased body fat [15], impaired glucose regulation, type 2 diabetes [16] and inflammation [17], which are common disorders observed in the course of PCOS.…”

Evaluation of Serum Superoxide Dismutase Levels in Lumbar Degenerative Spinal Diseases: A Prospective Meta-analysis

“…In our study, smokers had lower serum SOD levels than non-smokers, but this was not statistically significant. This is important because it was the first study on SOD1 A251G polymorphism in the Turkish population (10) . We believe that research on antioxidant systems in different areas, such as our work, will provide values specific to the Turkish community as well as the medical literature as a whole.…”

Association of Superoxide Dismutase (SOD1) Gene Polymorphism with Oxidative Stress in PAHs Exposed Brick Kiln Workers in Haryana

“…The polymorphism analysis for the SOD1 A251G region was done by PCR-RFLP method described by Silig et al, 2017 with minor modifications. Reaction mixture (25 L) consisted of 1 L of genomic DNA template (~100 ng/ L), 0.5 l of each forward and reverse primers (25pmol), 0.5 L of dNTPs (200 M), 2.5 L PCR buffer with 15 m M/L MgCl 2 (1x), 0.5 L of Taq polymerase (3 U/l) and 19.5 L nuclease MONIKA RANI ET AL S281 free water (Bangalore Genei, Bangalore, India) and 5% dimethyl sulfoxide.…”