Genetic factors in catechol estrogen metabolism in relation to the risk of endometrial cancer

Cancer Epidemiol Biomarkers Prev. 2005 Feb;14(2):357-66. doi: 10.1158/1055-9965.EPI-04-0479.

Abstract

2-Hydroxylated metabolites of estrogen have been shown to have antiangiogenic effects and inhibit tumor cell proliferation, whereas 4-hydroxylated metabolites have been implicated in carcinogenesis. We examined whether polymorphisms in certain genes involved in estrogen metabolism are associated with endometrial cancer risk in a population-based case-control study with 371 cases and 420 controls. Based on previously published genotype-phenotype correlation studies, we defined variant alleles thought to increase estrogen 2-hydroxylation as presumptively low-risk (CYP1A1 m1 T6235C and m2 Ile(462)Val) and those thought to increase estrogen 4-hydroxylation as high-risk (CYP1A1 m4 Thr(461)Asn, CYP1A2 A734C, and CYP1B1 Leu(432)Val). Odds ratios (OR) and 95% confidence intervals (95% CI) were calculated using unconditional logistic regression. Carrying at least one CYP1A1 m1 or m2 variant allele was associated with a decreased risk of endometrial cancer [ORs (95% CIs), 0.64 (0.44-0.93) and 0.54 (0.30-0.99), respectively]. No strong alteration in risk was observed among women with any of the putative high-risk alleles. When CYP1A1, CYP1A2, and CYP1B1 genotypes were combined and ranked by the number of putative low-risk genotypes carried, women with four or five low-risk genotypes had a reduced risk of endometrial cancer (OR, 0.29; 95% CI, 0.15-0.56) compared with women with one or none. No appreciable alteration in risk was observed among women carrying two or three low-risk genotypes. Some of our findings are consistent with the hypothesis that increased estrogen 2-hydroxylation is associated with decreased endometrial cancer risk, but replication of these results is required before any firm conclusions can be reached.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Aged
  • Aryl Hydrocarbon Hydroxylases / genetics
  • Case-Control Studies
  • Catechol O-Methyltransferase / genetics
  • Cytochrome P-450 CYP1A1 / genetics
  • Cytochrome P-450 CYP1A2 / genetics
  • Cytochrome P-450 CYP1B1
  • Endometrial Neoplasms / epidemiology
  • Endometrial Neoplasms / genetics*
  • Endometrial Neoplasms / metabolism
  • Estrogens, Catechol / metabolism*
  • Female
  • Genotype
  • Glutathione Transferase / genetics
  • Humans
  • Middle Aged
  • Polymorphism, Genetic
  • Risk Factors

Substances

  • Estrogens, Catechol
  • Aryl Hydrocarbon Hydroxylases
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1A1
  • Cytochrome P-450 CYP1A2
  • Cytochrome P-450 CYP1B1
  • Catechol O-Methyltransferase
  • glutathione S-transferase T1
  • Glutathione Transferase
  • glutathione S-transferase M1