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

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.

• Authors: Dominik Denschlag, Eva-Katrin Bentz, Lukas Hefler, Detlef Pietrowski, Robert Zeillinger, Clemens Tempfer, Dan Tong
• Journal: Fertility and sterility (Fertil Steril) Vol. 85 Issue 2 Pg. 462-7 (Feb 2006) ISSN: 1556-5653 [Electronic] United States
• PMID: 16595228 (Publication Type: Journal Article)

Chemical References

• Estrogen Receptor alpha
• Guanine
• Cytosine
• Steroid 17-alpha-Hydroxylase
• Catechol O-Methyltransferase
• Adenine
• Thymine

Topics

• Adenine
• Adult
• Case-Control Studies
• Catechol O-Methyltransferase (genetics)
• Cytosine
• Estrogen Receptor alpha (genetics)
• Female
• Genetic Predisposition to Disease
• Genotype
• Guanine
• Humans
• Introns
• Leiomyoma (genetics)
• Middle Aged
• Polymorphism, Single Nucleotide
• Prospective Studies
• Steroid 17-alpha-Hydroxylase (genetics)
• Thymine
• Uterine Neoplasms (genetics)
• White People (genetics)