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Fertil Steril. 2006 Feb;85(2):462-7.

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

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  • 1Department of Obstetrics and Gynecology, University of Freiburg, School of Medicine, Freiburg, Germany. ddenschl@frk.ukl.uni-freiburg.de

Abstract

OBJECTIVE:

To 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.

DESIGN:

Prospective case control study.

SETTING:

Academic 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.

[PubMed - indexed for MEDLINE]
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