title: 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.
  
  
  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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Freiburg, School of Medicine, Freiburg, Germany. ddenschl@frk.ukl.uni-freiburg.de
authors.forename: Dominik
authors.initials: D
authors.lastname: Denschlag
authors.forename: Eva-Katrin
authors.initials: EK
authors.lastname: Bentz
authors.forename: Lukas
authors.initials: L
authors.lastname: Hefler
authors.forename: Detlef
authors.initials: D
authors.lastname: Pietrowski
authors.forename: Robert
authors.initials: R
authors.lastname: Zeillinger
authors.forename: Clemens
authors.initials: C
authors.lastname: Tempfer
authors.forename: Dan
authors.initials: D
authors.lastname: Tong
mesh_terms: 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*
chemical_list: D047628:Estrogen Receptor alpha; D006147:Guanine; D003596:Cytosine; D013254:Steroid 17-alpha-Hydroxylase; D002394:Catechol O-Methyltransferase; D000225:Adenine; D013941:Thymine