Research Institute, National Cancer Center, 323 Ilsan-ro, Ilsandong-gu, Goyang-si, 10408, Korea.
Department of Medicine, Hanyang University College of Medicine, Seoul, Korea.
Sci Rep. 2020 Apr 16;10(1):6564. doi: 10.1038/s41598-020-62361-9.
The associations between genetic polymorphisms in ADH1B (rs1229984) and ALDH2 (rs671), alcohol consumption, the effect of a combination of the two polymorphisms, and breast cancer risk were studied in a population of East-Asian women. In this study, 623 breast cancer cases and 1845 controls, aged 40 or above, were included. The association between ALDH2 polymorphism and breast cancer risk was validated in 2143 breast cancer cases and 3977 controls. Alcohol consumption increased the risk of breast cancer regardless of ADH1B and ALDH2 genotypes. The rs671 polymorphism of ALDH2 was independently associated with increased breast cancer risk (OR = 1.27, 95% CI = 1.02-1.58 per increment of A). The ADH1B rs1229984 polymorphism, and combined effects of the rs671 and rs1229984 polymorphisms, did not reveal any significant association with breast cancer. Stratification by menopausal status revealed that rs671 gene polymorphisms were significantly associated with breast cancer only in postmenopausal women (OR = 1.45, 95% CI = 1.03-2.05 per increment of A). This is the first study to demonstrate an independent association between ALDH2 gene variants and breast cancer in Asian women. Further studies are warranted to further elucidate the etiology of breast cancer as it relates to alcohol consumption in Asian women.
该研究旨在探讨东亚女性人群中 ADH1B(rs1229984)和 ALDH2(rs671)基因多态性与酒精摄入、两种基因多态性联合作用以及乳腺癌风险之间的关系。本研究共纳入了 623 例乳腺癌患者和 1845 例年龄在 40 岁及以上的对照者。在 2143 例乳腺癌患者和 3977 例对照者中进一步验证了 ALDH2 多态性与乳腺癌风险的关系。无论 ADH1B 和 ALDH2 基因型如何,酒精摄入均增加了乳腺癌的发病风险。ALDH2 基因 rs671 多态性与乳腺癌发病风险独立相关(A 等位基因每增加一个,OR=1.27,95%CI=1.02-1.58)。ADH1B rs1229984 多态性以及 rs671 和 rs1229984 多态性的联合作用与乳腺癌均无显著相关性。按绝经状态分层后发现,rs671 基因多态性仅与绝经后女性的乳腺癌显著相关(A 等位基因每增加一个,OR=1.45,95%CI=1.03-2.05)。这是首个在亚洲女性中证实 ALDH2 基因变异与乳腺癌独立相关的研究。有必要进一步开展研究以阐明亚洲女性中与酒精摄入相关的乳腺癌发病机制。