Background: Polymorphisms which are inherited alterations in the activity of cytochrome P450 1B1 (CYP1B1), catechol O-methyltransferase (COMT), manganese superoxide dismutase (MnSOD) hold the potential to define differences in estrogen metabolism and, thereby, possibly explain inter-individual differences in cancer susceptibility associated with estrogen-mediated carcinogenesis.
Methods: The CYP1B1 (L432V), COMT (V158M), MnSOD (Ala-9Val) genotypes, to examine estrogen metabolism and the influence of age of menarche/menopause, were determined by using different polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) based on genotyping assays.
Results: Women who carried CYP1B1 *3 and COMT-L alleles had an earlier age at menarche than the women who carried wild alleles (chi2 = 4.57, p = 0.032), whereas I did not observe any correlation in women with all mutant alleles. Also, CYP1B1 *3 and COMT-H genotypes were common among postmenopausal women with a body mass index (BMI) > 27 kg/m2 (Fisher exact test, p = 0.044).
Conclusions: To my knowledge, this is the first genetic study on the association of these genes with susceptibility in Turkish women. Although the small sample size of each combination of estrogen metabolizing, results suggest that the CYP1B1 *3 and COMT-L alleles influence age at menarche in healthy Turkish women.