AI Article Synopsis

  • Oxidative stress is a significant factor in cancer development, particularly in breast cancer, and is linked to NADPH oxidase (NOX) and the CYBA gene, which has specific polymorphisms.
  • A study was conducted comparing 300 breast cancer patients to 300 healthy controls, examining the association of CYBA gene SNPs (-930 A/G and 242 C/T) with oxidative stress as indicated by higher plasma MDA levels.
  • Results indicated that certain haplotypes of CYBA polymorphisms increased the risk of breast cancer and were correlated with elevated oxidative stress, suggesting that these genetic variations may contribute to cancer development.

Article Abstract

Background: Oxidative stress (OS) is a key characteristic feature in cancer initiation and progression. Among multiple cancers, NADPH oxidase (NOX) dependent free radical production is implicated in oxidative stress. P22phox, a subunit of NADPH oxidase encoded by the CYBA gene has functional polymorphisms associated with various complex diseases. The present study was aimed to examine the importance and association of the functional polymorphisms of CYBA gene (-930 A/G and 242 C/T) with the oxidative stress in breast cancer (BC) development and progression.

Materials And Methods: We have performed a case-control study on 300 breast cancer patients and 300 healthy individuals as controls to examine the role of CYBA gene -930 A/G and 242 C/T single nucleotide polymorphisms (SNPs) using As-PCR and PCR-RFLP assays and its association with OS as measured by plasma MDA levels. Linkage disequilibrium (LD) plots were generated using Haploviewtool and Multifactor dimensionality reduction (MDR) analysis was applied to assess high-order interactions between the SNPs. The Insilco analysis has been performed to predict the effect of SNPs on the gene regulation using online tools.

Results: We have found that genotype frequencies of CYBA gene -930 A/G and 242C/T polymorphism were significantly different between controls and BC patients ( < 0.05). The haplotype combination -930G/242C and -930G/242T were associated with 1.44 & 1.56 folds increased risk for breast cancer respectively. Further, the MDA levels were higher in the patients carrying -930G/242C and -930G/242T haplotype ( < 0.001). Our results have been substantiated by Insilco analysis.

Conclusion: Results of the present study suggest that GG genotype of -930 A/G polymorphism, -930G/242C and -930G/242T haplotypes of CYBA gene polymorphisms have shown association with higher MDA levels in breast cancer patients, signify that elevated oxidative stress might aid in increased risk for breast cancer initiation and progression.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174867PMC
http://dx.doi.org/10.7717/peerj.5509DOI Listing

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