estrogen receptor alpha gene single nucleotide polymorphisms, +2464 c/t and 4576a/c, and breast cancer risk, a hospital-based case-control study

Background: estrogen is a risk factor for the development of breast cancer. the effect of estrogen is primarily mediated by estrogen receptor alpha 1 (esr1). in this study, we investigated the association between breast cancer risk and the frequency of alleles and genotypes for two esr1 single nucleotide polymorphisms (snps) in breast cancer patients and a healthy control group. methods: a total of 98 female patients with pathologically confirmed breast cancer and 93 age-matched healthy female controls who were selected from the visitors of the general hospital were recruited in the study. two esr1 candidate polymorphisms; +2464 c/t (rs3020314) and -4576 a/c (rs1514348) were selected. the frequency of alleles and genotypes was determined using quantitative real-time pcr assay. linkage disequilibrium (ld) was assessed for each pair of markers. using logistic regression, genotype frequencies were estimated as odds ratios with 95% confidence intervals. results: there was no significant difference in the genotype and allele distributions of esr1 for snps +2464 c/t and snp -4576 a/c between patients and controls. the frequency of the esr1 +2464 t/t genotype in case and control groups was 31.6% vs 29.0%, (or tt/tc: 1.13, 95%ci: 0.58, 2.20; p = 0.69). the frequency of the +2464c allele was 33.9% vs 35.2%, (or c/t: 0.94, 95%ci: 0.60, 1.47; p =0.79). the frequency of the esr1 -4576c/c genotype in case and control groups was 37.75% vs 33.36%, or cc/ac: 1.02, 95%ci: 0.51, 1.97; p =0.98). the frequency of the -4576a allele was 36.2% vs 43.6 %, (or c/a: 0.73, 95%ci: 0.47, 1.13; p =0.14). conclusion: the results indicated that esr1 polymorphism does not show any significant association with breast cancer risk among female iranian adults.