Role of alcohol and genetic polymorphisms of CYP2E1 and ALDH2 in breast cancer development

Pharmacogenetics. 2003 Feb;13(2):67-72. doi: 10.1097/00008571-200302000-00002.


Objective: We examined the potential association between alcohol consumption and genetic polymorphisms in the alcohol metabolizing enzymes, CYP2E1 and ALDH2, in individual susceptibility to breast cancer in a Korean study population.

Methods: Three hundred and forty-six histologically confirmed breast cancer patients and 377 controls with no present or previous history of cancer were recruited from several teaching hospitals in Seoul during 1995-2001. The CYP2E1 RsaI polymorphism was determined by a real time PCR method, and the ALDH2 Glu487 Lys polymorphism was determined by a PCR method with confronting two-pair primers (PCR-CTPP).

Results: The drinking women had a 1.4-fold risk for breast cancer (95% CI = 0.99-2.11) compared to never drinkers after adjustment for age and family history of breast cancer. No statistically significant overall differences were seen in the genotype frequencies between breast cancer cases and controls. However, the "ever"-drinking women with the CYP2E1 c2 allele containing genotypes had a 1.9-fold risk (95% CI = 0.99-3.83) for developing breast cancer compared to non-drinkers with the CYP2E1 c1/c1 genotype (P for interaction = 0.043).

Conclusion: This study therefore suggests that the CYP2E1 c2 allele may influence the individual susceptibility to breast cancer in alcohol-consuming women.

Publication types

  • Comparative Study
  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alcohol Drinking / genetics*
  • Alcohol Drinking / metabolism
  • Aldehyde Dehydrogenase / genetics*
  • Aldehyde Dehydrogenase, Mitochondrial
  • Alleles
  • Breast Neoplasms / enzymology
  • Breast Neoplasms / genetics*
  • Case-Control Studies
  • Cytochrome P-450 CYP2E1 / genetics*
  • DNA Primers / chemistry
  • Disease Progression
  • Ethanol / metabolism
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic*
  • Restriction Mapping
  • Risk Factors


  • DNA Primers
  • Ethanol
  • Cytochrome P-450 CYP2E1
  • ALDH2 protein, human
  • Aldehyde Dehydrogenase
  • Aldehyde Dehydrogenase, Mitochondrial