ESR1多态性与中国汉族人群乳腺癌易感性的关联研究

Estrogen receptor has been demonstrated as an enhancer in the development of breast cancer and its expression is related to endocrine therapy of breast cancer. Three variants (rs3757318, rs2046210 and rs3734805) in ESR1 which selected from previous GWAS studies were genotyped via Sequenom MassArray? iPLEX System in 845 breast cancer patients and 882 healthy controls. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratified analyses according to the status of Estrogen Receptor (ER) and Progesterone Receptor (PR), were also performed. Of three SNPs, rs3735318 did not pass HWE test, so exclude from the followed analysis. Other two SNPs (rs2046210, rs37324085) strongly associated with susceptibility of breast cancer. Allele T of rs2046210 and Allele C of rs373485 were risk alleles and the adjusted odds rations for them were 1.36 (95% CI: 1.18-1.56, P<0.0001) and 1.32 (95%CI: 1.14-1.53, P<0.0001). Furthermore, the risk allele of rs2046210 was prone to negative than positive in ER and PR immunohsitochemical test, OR of 0.602 (95% CI: 0.384-0.944, P=0.027) and 0.532 (95% CI: 0.609-0.930, P=0.006), respectively. Our study data imply that rs2046210 and rs373485 could be risk markers of breast cancer in Chinese women. Besides, women with breast cancer carried risk allele of rs2046210 may be not suitable for endocrine therapy and have pooper prognosis due to the high probability of ER/PR-negative.