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


METHODS
Prospective case control study.


METHODS
Academic research institution.


METHODS
One hundred thirty women with clinically and surgically diagnosed uterine leiomyomas and 139 population controls.


METHODS
Peripheral venous puncture.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Denschlag
Dominik
D
Department of Obstetrics and Gynecology, University of Freiburg, School of Medicine, Freiburg, Germany. ddenschl@frk.ukl.uni-freiburg.de
Bentz
Eva-Katrin
EK
Hefler
Lukas
L
Pietrowski
Detlef
D
Zeillinger
Robert
R
Tempfer
Clemens
C
Tong
Dan
D
D000225:Adenine; D000328:Adult; D016022:Case-Control Studies; D002394:Catechol O-Methyltransferase / Q000235:genetics*; D003596:Cytosine; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006147:Guanine; D006801:Humans; D007438:Introns; D007889:Leiomyoma / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D013941:Thymine; D014594:Uterine Neoplasms / Q000235:genetics*; D044465:White People / Q000235:genetics*
D047628:Estrogen Receptor alpha; D006147:Guanine; D003596:Cytosine; D013254:Steroid 17-alpha-Hydroxylase; D002394:Catechol O-Methyltransferase; D000225:Adenine; D013941:Thymine