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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.

Role of aldehyde dehydrogenases, alcohol dehydrogenase 1B genotype, alcohol consumption, and their combination in breast cancer in East-Asian women