• Association of the SOD2 rs5746136 (T/C substitution) Polymorphism with the risk of breast cancer in Iranian women
  • Sara Asadi,1 Morteza Abkar,2 Zahra Zamanzadeh,3 Setareh Taghipour,4 Maryam Sedghi,5 Saghar Yousefnia,6,*
    1. 1. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Isfahani University, Isfahan, Iran 2. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
    2. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Isfahani University, Isfahan, Iran
    3. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Isfahani University, Isfahan, Iran
    4. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Isfahani University, Isfahan, Iran
    5. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
    6. 1. Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran 2. Department of Biotechnology, Faculty of Biological Sciences and Technology, Shahid Ashrafi Isfahani University, Isfahan, Iran


  • Introduction: Breast cancer is the most common cancer among women affecting up to one third of them during their lifespans. Genetic polymorphisms can change the risk of breast cancer due to changes in gene expression or protein structure. It has been suggested that oxidative stress plays an important role in breast cancer carcinogenesis. Manganese superoxide dismutase (MnSOD/SOD2) is one of the major antioxidant enzymes that is responsible for the detoxification of reactive oxygen species in the mitochondria and plays a key role in maintaining the balance of free radicals in the human body. Several single nucleotide polymorphisms have been well defined in the gene encoding SOD2, including the potentially functional polymorphism of rs5746136. The aim of the present study is to investigate the association between rs5746136 (T/C substitution) polymorphism and the risk of breast cancer among Iranian women.
  • Methods: This study included 100 breast cancer patients and 100 healthy individuals as a control group. Genotyping of rs5746136 was done by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. Values are presented as mean ± SD for age, weight, height and BMI, and as % for other variables. P values (P < 0.05) were calculated using t-test for continuous variables and Chi-square test for categorical variables.
  • Results: Breast cancer patients and the control group were compared for the T allele (OR 1.956, 95% CI 1.312 - 2.916; P=0.0009) of the rs5746136. The CT (OR 0.218, 95% CI 0.099 - 0.478; P=0.0001) and TT (OR 0.158, 95% CI 0.055 - 0.451; P=0.0003) genotypes of the rs5746136 showed significant differences between breast cancer patients and controls compared to CC genotype.
  • Conclusion: It is indicated based on our data that the risk of breast cancer decreased with “CT” and “TT” genotypes of the rs5746136 variant compared with the controls in Iranian women.
  • Keywords: breast cancer, SOD2, rs5746136, PCR-RFLP