Association between single-nucleotide polymorphisms in estrogen receptor beta gene and risk of prostate cancer

Abstract

This study was undertaken to investigate the relationship of some single nucleotide polymorphisms (SNPs) of estrogen receptor beta (ERbeta) with the risk of prostate cancer (CaP). The allele, genotype distribution in an association study with case-control samples involving 40 CaP cases and 86 unrelated healthy male subjects was analyzed. In these individuals, three upstream regions of the proximal ER promoter SNPs (rs3829768, rs1271572, rs3841304) and exon 7 SNP (rs1256049) were analyzed by directly sequencing amplified PCR products of genomic DNA. Four polymorphisms were identified. The rs3841304 was excluded from further analysis because of significant deviation from the Hardy-Weinberg equilibrium. The genotype and allele frequency of rs3829768 (A/G) and rs1271572 (C/A) in the upstream region of proximal promoter were significantly decreased in the CaP cases versus control (P < 0.01). Our study suggests that this disease of interest is highly associated with rs3829768 (A/G) and rs1271572 (C/A) in CaP cases. CaP, prostate cancer; ERalpha, estrogen receptor alpha; ERbeta, estrogen receptor beta; SNP, Single nucleotide polymorphisms; betaERKO, ERbeta knockout; PIN, prostatic intraepithelial neoplasia; HWE, Hardy-Weinberg equilibrium; NRE, Negative Regulatory Element.