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首页> 外文期刊>Genetics and Molecular Research >Validation of associations between ESR1 variants and breast cancer risk in Chinese cohorts
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Validation of associations between ESR1 variants and breast cancer risk in Chinese cohorts

机译：在中国队列中验证ESR1变异与乳腺癌风险之间的关联

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Estrogen receptor-a (ER) protein plays a key role in breast carcinogenesis, and common genetic variants in the corresponding gene locus have been associated with breast cancer risk in different populations. Here, we analyzed estrogen receptor 1 (ESR1) associations in two hospital-based studies of patients from the south of China. Three single-nucleotide polymorphisms (SNPs; rs3757318, rs2046210, and rs3734805) in ESR1 were selected from previous genome-wide association study results and were genotyped using the 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 ER and progesterone receptor (PR) were also performed. Of the three SNPs, rs3757318 did not pass the Hardy-Weinberg equilibrium test and was excluded from the subsequent analysis. The other two SNPs (rs2046210 and rs3734805) were strongly associated with susceptibility to breast cancer. Allele T of rs2046210 and allele C of rs3734805 were risk alleles and the adjusted ORs were 1.348 (95%CI = 1.172-1.550, P = 0.0001) and 1.319 (95%CI = 1.144-1.522, P = 0.0001), respectively. Furthermore, the risk allele of rs2046210 gave negative results for ER and PR expression in an immunohistochemical test, with ORs of 0.602 (95%CI = 0.384-0.944, P = 0.027) and 0.532 (95%CI = 0.338-0.837, P = 0.006), respectively. Our study further supports associations between rs2046210 and rs3734805 and breast cancer risk in Chinese women.
机译：雌激素受体α（ER）蛋白在乳腺癌的致癌过程中起着关键作用，并且相应基因位点的常见遗传变异与不同人群的乳腺癌风险相关。在这里，我们在来自中国南方的两项基于医院的研究中分析了雌激素受体1（ESR1）的关联。从先前的全基因组关联研究结果中选择ESR1中的三个单核苷酸多态性（SNP，rs3757318，rs2046210和rs3734805），并使用Sequenom MassARRAY对它们进行基因分型。 iPLEX系统可用于845名乳腺癌患者和882名健康对照。进行了基于无条件逻辑回归的关联分析，以确定每个SNP的优势比（OR）和95％置信区间（95％CI）。还根据ER和孕激素受体（PR）的状态进行了分层分析。在这三个SNP中，rs3757318未通过Hardy-Weinberg平衡测试，因此被排除在随后的分析之外。其他两个SNP（rs2046210和rs3734805）与乳腺癌的易感性密切相关。 rs2046210的等位基因T和rs3734805的等位基因C为风险等位基因，调整后的OR分别为1.348（95％CI = 1.172-1.550，P = 0.0001）和1.319（95％CI = 1.144-1.522，P = 0.0001）。此外，在免疫组织化学测试中，rs2046210的风险等位基因给出了ER和PR表达的阴性结果，OR分别为0.602（95％CI = 0.384-0.944，P = 0.027）和0.532（95％CI = 0.338-0.837，P = 0.006）。我们的研究进一步支持rs2046210和rs3734805与中国女性患乳腺癌的风险之间的关联。

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