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目的研究成纤维细胞生长因子受体2(FGFR2)基因rs2981579单核苷酸多态性与中国汉族女性乳腺癌患病风险及临床病理特征的关系。方法抽取321例汉族女性乳腺癌患者和330名健康女性对照组外周血,抽提基因组DNA,采用聚合酶链反应连接酶检测反应(PCR-LDR)检测FGFR2 rs2981579基因多态性,比较基因型分布和患病风险及临床病理特征的关系。结果 rs2981579低频等位基因频率在病例组和对照组分别为46.9%和46.3%。以CC基因型为参照,CT或TT基因型没有显著提高乳腺癌的患病风险,其中携带CT基因型患病风险为OR=0.972,95%CI:0.648～1.458;携带TT基因型患病风险为OR=1.042,95%CI:0.668～1.626。rs2981579单核苷酸多态性与发病年龄、淋巴结转移、雌孕激素受体状态等临床病理参数无相关性。结论 FGFR2基因rs2981579多态性不是中国汉族女性乳腺癌患病风险因子和预后预测因子。
Objective To investigate the relationship between rs2981579 single nucleotide polymorphism of fibroblast growth factor receptor 2 (FGFR2) gene and clinicopathological characteristics of breast cancer in Chinese Han women. Methods Genomic DNA was extracted from 321 cases of Han female patients with breast cancer and 330 healthy female controls. PCR-LDR was used to detect the gene polymorphism of FGFR2 rs2981579, genotype distribution was compared And the risk of disease and clinicopathological features. Results The frequency of rs2981579 low frequency allele was 46.9% and 46.3% in case group and control group respectively. CT genotype as a reference, CT or TT genotype did not significantly increase the risk of breast cancer risk, which carry CT genotype risk for OR = 0.972,95% CI: 0.648 ~ 1.458; carry TT genotype risk OR = 1.042, 95% CI: 0.668 ~ 1.626. rs2981579 SNP had no correlation with clinicopathological parameters such as age at onset, lymph node metastasis, estrogen and progesterone receptor status. Conclusion The rs2981579 polymorphism of FGFR2 gene is not a risk factor for breast cancer in Chinese Han women and a predictor of prognosis.