ESR基因单核苷酸多态性与EGFR敏感突变的非小细胞肺癌脑转移风险的相关性

吴毕力; 金玉; 周潇; 袁响林; 李倩侠

doi:10.3971/j.issn.1000-8578.2020.20.0837

ESR基因单核苷酸多态性与EGFR敏感突变的非小细胞肺癌脑转移风险的相关性

Association Between Single Nucleotide Polymorphisms in ESR Pathway and Risk of Brain Metastasis in NSCLC with EGFR Mutation

摘要

摘要:
目的探讨雌激素受体信号通路中基因的单核苷酸多态性与EGFR敏感突变的非小细胞肺癌脑转移发生风险的相关性。
方法提取105例EGFR敏感突变的非小细胞肺癌患者全血样本的基因组DNA。选择雌激素受体信号通路中ESR1和ESR2基因的7个单核苷酸多态性(SNP)位点并检测这7个SNPs位点的基因型。通过Kaplan-Meier分析评估基因型与累积脑转移发生率的相关性。采用多因素Cox回归分析来评估基因型与脑转移发生风险之间的相关性。
结果发现ESR1：rs2982685的GA/AA基因型和ESR2：rs3020443的AC/CC基因型会增加脑转移风险(HR=5.845, 95%CI: 1.979-17.263, P=0.001; HR=5.288, 95%CI: 1.859-15.036, P=0.002)。
结论雌激素受体信号通路上的基因变异可预测EGFR敏感突变的非小细胞肺癌患者脑转移发生风险。

Abstract:
Objective To explore the relation between the single nucleotide polymorphism of genes in estrogen receptor signaling pathway and the risk of brain metastasis in NSCLC with EGFR mutation.
Methods Genomic DNA was extracted from 105 whole blood samples of NSCLC with EGFR mutation. Seven SNPs in ESR1 and ESR2 genes were selected. Subsequently, the genotypes of these seven SNPs in 105 patients were detected. Kaplan-Meier analysis was used to assess the association between genotype and cumulative brain metastasis rate. Multivariate Cox regression analysis was used to analyze the correlation between genotype variants and the occurrence of brain metastasis.
Results The GA/AA genotype of ESR1: rs2982685 and AC/CC genotype of ESR2: rs3020443 were associated with high risk of brain metastasis (HR=5.845, 95%CI: 1.979-17.263, P=0.001; HR=5.288, 95%CI: 1.859-15.036, P=0.002).
Conclusion Gene mutations in the estrogen receptor signaling pathway can predict the risk of brain metastases in NSCLC patients with EGFR mutations.

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