Genotype distribution of estrogen receptor-alpha, catechol-O-methyltransferase, and cytochrome P450 17 gene polymorphisms in Caucasian women with uterine leiomyomas

ObjectiveTo evaluate the association between the presence of uterine leiomyomas and three functional single nucleotide polymorphisms (SNPs) of the estrogen receptor alpha (ESR1), catechol-O-methyltransferase (COMT), and cytochrom P450 17 (CYP17A) genes, which have been described to modify the estrogen metabolism.DesignProspective case control study.SettingAcademic research institution.Patient(s)One hundred thirty women with clinically and surgically diagnosed uterine leiomyomas and 139 population controls.Intervention(s)Peripheral venous puncture.Main Outcome Measure(s)Polymerase chain reaction and pyrosequencing were performed to genotype women with respect to the ESR1 IVS1-397 T/C (PvuII), COMT G158A, and the CYP17A 34T→C SNPs.Result(s)Comparing women with uterine leiomyomas and controls, no statistically significant differences with respect to allele frequency and genotype distribution were ascertained for ESR1 IVS 1-397 T/C (PvuII) (P=0.9 and P=0.6, respectively), COMT G158A (P=0.3 and P=0.6, respectively), and CYP17A 34T→C (P=0.1 and P=0.5, respectively). When all two-way interactions of investigated SNPs were ascertained, no significant interactions were observed. In a multivariate model, no SNP was significantly associated with leiomyomas.Conclusion(s)Carriage of the ESR1 IVS1-397 T/C (PvuII), COMT G158A, and the CYP17A 34T→C SNPs is not associated with the susceptibility to uterine leiomyoma in a Caucasian population.