Polymorphisms in the promoter region of ESR2 gene and susceptibility to ovarian cancer

- Three SNPs in the promoter region of ESR2 gene were genotyped
- Genotype frequencies were analyzed in 368 women with and without ovarian cancer
- The AA genotype of SNP rs3020449 was more frequent in patients staged FIGO III + IV
- The G allele was less frequent in FIGO I + II cases than in higher staged cases
- The SNP rs3020449 might affect ovarian cancer progression

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.