title: Polymorphisms in the promoter region of ESR2 gene and susceptibility to ovarian cancer.
abstract: Susceptibility to ovarian cancer might be affected by genetic variations in genes involved in estrogen biosynthesis, metabolism or signal transduction. In this study we tested the hypothesis that single nucleotide polymorphisms (SNPs) in the promoter of human ESR2 gene, coding for estrogen receptor β, may be associated with increased risk for ovarian cancer. Three SNPs in the promoter region of human ESR2 gene were genotyped by means of allele-specific tetra-primer PCR. A total of 184 ovarian cancer cases and the same numbers of controls were included in the study. With regard to homozygous analysis, the AA genotype of SNP rs3020449 was found to be significantly more frequent in ovarian cancer cases staged as FIGO III+IV than in cases staged as I+II (OR 2.717, p=0.027). With regard to allele frequency, the G allele of this SNP was less frequent in FIGO I+II cases than in cases with higher FIGO stages (OR 1.739, p=0.018). With regard to genotype frequency, allele frequency, allele positivity or haplotype frequency of SNPs rs2987983, rs3020449 and rs3020450 we did not observe a significant difference between the cancer and the control group. Our data suggest that SNPs in the promoter region of ESR2 gene do not affect susceptibility to ovarian cancer, but SNP rs3020449 might affect progression of this disease.
authors.affiliation: Department of Gynecology and Obstetrics, University Medical Center Regensburg, Regensburg, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Schüler
authors.affiliation: Department of Gynecology and Obstetrics, University Medical Center Regensburg, Regensburg, Germany.
authors.forename: Claus
authors.initials: C
authors.lastname: Lattrich
authors.affiliation: Second Department of Gynecology, Medical University of Lublin, Lublin, Poland.
authors.forename: Maciej
authors.initials: M
authors.lastname: Skrzypczak
authors.affiliation: Department of Gynecology and Obstetrics, University of Tübingen, Tübingen, Germany.
authors.forename: Tanja
authors.initials: T
authors.lastname: Fehm
authors.affiliation: Department of Gynecology and Obstetrics, University Medical Center Regensburg, Regensburg, Germany.
authors.forename: Olaf
authors.initials: O
authors.lastname: Ortmann
authors.affiliation: Department of Gynecology and Obstetrics, University Medical Center Regensburg, Regensburg, Germany. Electronic address: otreeck@caritasstjosef.de.
authors.forename: Oliver
authors.initials: O
authors.lastname: Treeck
mesh_terms: D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012189:Retrospective Studies
chemical_list: D047629:Estrogen Receptor beta; D009363:Neoplasm Proteins
keywords: Case–control study; Estrogen receptor beta; Ovarian cancer; Single nucleotide polymorphism