The functional ALDH2 polymorphism is associated with breast cancer risk: A pooled analysis from the Breast Cancer Association Consortium

BACKGROUND: Epidemiological studies consistently indicate that alcohol consumption is an independent risk factor for female breast cancer (BC). Although the aldehyde dehydrogenase 2 (ALDH2) polymorphism (rs671: Glu>Lys) has a strong effect on acetaldehyde metabolism, the association of rs671 with BC risk and its interaction with alcohol intake have not been fully elucidated. We conducted a pooled analysis of 14 case-control studies, with individual data on Asian ancestry women participating in the Breast Cancer Association Consortium.

METHODS: We included 12,595 invasive BC cases and 12,884 controls for the analysis of rs671 and BC risk, and 2,849 invasive BC cases and 3,680 controls for the analysis of the gene-environment interaction between rs671 and alcohol intake for BC risk. The pooled odds ratios (OR) with 95% confidence intervals (CI) associated with rs671 and its interaction with alcohol intake for BC risk were estimated using logistic regression models.

RESULTS: The Lys/Lys genotype of rs671 was associated with increased BC risk (OR = 1.16, 95% CI 1.03-1.30, p = 0.014). According to tumor characteristics, the Lys/Lys genotype was associated with estrogen receptor (ER)-positive BC (OR = 1.19, 95% CI 1.05-1.36, p = 0.008), progesterone receptor (PR)-positive BC (OR = 1.19, 95% CI 1.03-1.36, p = 0.015), and human epidermal growth factor receptor 2 (HER2)-negative BC (OR = 1.25, 95% CI 1.05-1.48, p = 0.012). No evidence of a gene-environment interaction was observed between rs671 and alcohol intake (p = 0.537).

CONCLUSION: This study suggests that the Lys/Lys genotype confers susceptibility to BC risk among women of Asian ancestry, particularly for ER-positive, PR-positive, and HER2-negative tumor types.

Additional Info

  • Authors:

    Ugai, T.;Milne, R. L.;Ito, H.;Aronson, K. J.;Bolla, M. K.;Chan, T.;Chan, C. W.;Choi, J. Y.;Conroy, D. M.;Dennis, J.;Dunning, A. M.;Easton, D. F.;Gaborieau, V.;Gonzalez-Neira, A.;Hartman, M.;Healey, C. S.;Iwasaki, M.;John, E. M.;Kang, D.;Kim, S. W.;Kwong, A.;Lophatananon, A.;Michailidou, K.;Taib, N. A. M.;Muir, K.;Park, S. K.;Pharoah, P. D. P.;Sangrajrang, S.;Shen, C. Y.;Shu, X. O.;Spinelli, J. J.;Teo, S. H.;Tessier, D. C.;Tseng, C. C.;Tsugane, S.;Vincent, D.;Wang, Q.;Wu, A. H.;Wu, P. E.;Zheng, W.;Matsuo, K.

  • Issue: Mol Genet Genomic Med. ;7(6):e707
  • Published Date: 2019 Jun
  • More Information:

    For more information about this abstract, please contact
    This email address is being protected from spambots. You need JavaScript enabled to view it. at the Deutsche Weinakademie GmbH

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