Pharmacogenomics and Personalized Medicine (Jan 2022)

Association Between SNPs in the One-Carbon Metabolism Pathway and the Risk of Female Breast Cancer in a Chinese Population

  • Wang X,
  • Xiong M,
  • Pan B,
  • Cho WC,
  • Zhou J,
  • Wang S,
  • He B

Journal volume & issue
Vol. Volume 15
pp. 9 – 16

Abstract

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Xuhong Wang,1,2,* Mengqiu Xiong,2,* Bei Pan,1,2 William CS Cho,3 Jin Zhou,4 Shukui Wang,1,2,5 Bangshun He2,5 1School of Medicine, Southeast University, Nanjing, Jiangsu Province, 210096, People’s Republic of China; 2Department of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, 210006, People’s Republic of China; 3Department of Clinical Oncology, Queen Elizabeth Hospital, Hong Kong, People’s Republic of China; 4Department of General Surgery, Nanjing First Hospital, Nanjing Medical University, Nanjing, People’s Republic of China; 5Jiangsu Collaborative Innovation Center on Cancer Personalized Medicine, Nanjing Medical University, Nanjing, People’s Republic of China*These authors contributed equally to this workCorrespondence: Shukui WangSchool of Medicine, Southeast University, Nanjing, Jiangsu Province, 210096, People’s Republic of ChinaEmail [email protected] HeDepartment of Laboratory Medicine, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, 210006, People’s Republic of ChinaEmail [email protected]: The aim of this study is to assess the relationship between the single-nucleotide polymorphism (SNP) in the one-carbon metabolism pathway (MTR rs1805087; MTHFR rs1801133; ALDH1L1 rs2002287, rs2276731; DNMT1 rs16999593, rs2228611; DNMT3B rs2424908) and the risk of female breast cancer (BC) in a Chinese population.Methods: A population-based case–control study was conducted, involving a total of 439 BC patients and 439 age-matched healthy controls. We adopted Sequence MASSarray to identify genotyping, and used immunohistochemistry (IHC) to test the expression of estrogen receptor (ER), progesterone receptor (PR) and human epidermal growth factor receptor-2 (HER-2) in tumor tissue.Results: We found that rs16999593 (TC/CC vs TT: adjusted OR=1.38, 95% CI: 1.03– 1.84, p=0.030) was associated with an increased risk of BC, while rs2228611 was related to a decreased BC risk (GA/AA vs GG: adjusted OR=0.74, 95% CI: 0.56– 0.97, p=0.030). In addition, stratified analysis revealed that DNMT1 rs16999593, rs2228611 and ALDH1L1 rs2002287 contributed to the risk of BC, with associations with ER, PR and HER-2 expression.Conclusion: In summary, this study revealed that DNMT1 rs16999593 and rs2228611 were associated with BC risk.Keywords: one-carbon metabolism, DNA methylation, DNMT1, SNP, breast cancer

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