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

Pharmacogenomics and Personalized Medicine Pub Date : 2022-01-11 eCollection Date: 2022-01-01 DOI:10.2147/PGPM.S328612
Xuhong Wang, Mengqiu Xiong, Bei Pan, William C S Cho, Jin Zhou, Shukui Wang, Bangshun He
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Abstract

Objective: 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.

中国人群中单碳代谢途径snp与女性乳腺癌风险的关系
目的:探讨单碳代谢途径(MTR rs1805087;MTHFR rs1801133;ALDH1L1 rs2002287, rs2276731;DNMT1 rs16999593, rs2228611;DNMT3B rs2424908)与中国人群女性乳腺癌(BC)的风险方法:进行了一项基于人群的病例对照研究,共涉及439名BC患者和439名年龄匹配的健康对照。采用序列MASSarray进行基因分型鉴定,免疫组化(IHC)检测肿瘤组织中雌激素受体(ER)、孕激素受体(PR)和人表皮生长因子受体-2 (HER-2)的表达。结果:我们发现rs16999593 (TC/CC vs TT:校正OR=1.38, 95% CI: 1.03-1.84, p=0.030)与BC风险增加相关,而rs2228611与BC风险降低相关(GA/AA vs GG:校正OR=0.74, 95% CI: 0.56-0.97, p=0.030)。此外,分层分析显示DNMT1 rs16999593、rs2228611和ALDH1L1 rs2002287与BC的风险有关,与ER、PR和HER-2的表达有关。结论:综上所述,本研究揭示DNMT1 rs16999593和rs2228611与BC风险相关。
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