Superoxide Dismutase (rs2070424, rs4880, rs2536512) and Catalase (rs794316, rs1001179) SNPs and their Association with Breast Cancer Risk: Findings from a Hospital Based Case-Control Study

Document Type : Research Articles

Authors

1 Department of Molecular Biology and Genetics Krishna Vishwa Vidyapeeth (Deemed to be University) Malkapur, Karad Satara, Maharashtra, India.

2 Department of Oncology Krishna Vishwa Vidyapeeth (Deemed to be University Taluka-Karad, Dist- Satara, Pin-415 539, Maharashtra, India.

3 Department of Oncology Krishna Vishwa Vidyapeeth (Deemed to be University) Malkapur , Karad, Satara, Maharashtra, India.

4 Department of Molecular Biology and Genetics Krishna Vishwa Vidyapeeth (Deemed to be University) Taluka-Karad, Dist- Satara, Pin-415 1539, Maharashtra, India.

Abstract

Background: The antioxidant enzymes are important cellular components involved in detoxification of reactive oxygen species (ROS) and protect cells from ROS induced oxidative damage. Single nucleotide polymorphisms (SNPs) of antioxidant enzyme coding genes such as superoxide dismutase (SOD) and catalase (CAT) may alter the enzyme activity which can influence susceptibility towards carcinogenesis.  Therefore, the present study was planned to investigate possible SNPs of SOD (SOD1 (Cu,Zn-SOD), SOD2(Mn-SOD), SOD3(EC-SOD) and CAT genes and their possible association with breast cancer risk in rural Indian women. Methods: In this case-control study, the association of SOD and CAT gene polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The study was conducted among 400 clinically breast cancer patients and 400 healthy women in a population of South-Western Maharashtra. The logistic regression analysis was carried out to calculate Odds ratio (OR) with 95% confidence interval and p-value, where p ≤0.05 was considered as statistically significant. Results: The results of analysis of genotype frequency distribution showed significant association of rs4880 SNP of Mn-SOD with BC risk at homozygous variant (CC/CC) genotype (OR 2.46; 95%CI, 1.61-3.75; p<0.0001) and corresponding frequency of variant (C) allele (OR 1.53; 95%CI, 1.25-1.86; p<0.0001). In CAT gene polymorphisms the variant (T/T) was increased significantly in BC cases as compared to controls (OR 3.45; 95%CI, 2.17-5.50; p<0.0001) along with its variant (T) allele (OR 2.01; 95%CI, 1.63-2.48; p<0.0001). Conclusions: The results implied that, C/C genotype of SOD2-1183T/C polymorphism and T/T genotype of CAT-262 C/T polymorphism may be associated with an increased breast cancer risk. However, SOD1-251 A/G and SOD3-172 G/A polymorphisms did not show any significant difference in variant homozygous genotypes of patients compared to controls.

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Volume 25, Issue 1
January 2024
Pages 175-184
  • Receive Date: 18 August 2023
  • Revise Date: 08 December 2023
  • Accept Date: 24 January 2024
  • First Publish Date: 24 January 2024