贵州汉族人群乳腺癌与FGFR2 rs1219648多态性相关性研究*

目的:探讨贵州汉族人群成纤维细胞生长因子受体2（fibroblast growth factor receptor 2，FGFR2）基因单核苷酸多态性与女性乳腺癌易感性之间的相关性。方法:运用聚合酶链反应- 序列特异性引物（PCR-SSP ）方法分析106 例女性乳腺癌患者和116 例正常对照女性FGFR2 基因内含子5 rs 1219648 多态性的分布情况。结果:乳腺癌组FGFR2 基因单核苷酸多态性位点rs 1219648 的基因型（TT，TC，CC）频率分别为50.00% 、25.47% 和24.53% ，对照组分别为29.31% 、48.28% 和22.41% ，乳腺癌组与对照组T 等位基因频率分别为62.74% 和53.45% ，C 等位基因频率分别为37.26% 和46.55% ，FGFR2 rs 1219648 基因型频率及等位基因频率在乳腺癌组与对照组中的分布差异均有统计学意义（P<0.05）。 结论:FGFR2 基因内含子5 的单核苷酸位点rs 1219648 多态性与乳腺癌可能具有相关性。携带FGFR2 rs 1219648 的TT等位基因型的人群可能更易患乳腺癌。 

The Association of FGFR2 rs1219648 Polymorphism with Susceptibility of Breast Cancer in Han Population in Guizhou Province

Objective:To investigate the association between polymorphisms of FGFR2 and the susceptibility of breast cancer in Han population in Guizhou province.Methods:Genotyping was performed using PCR-sequence-specific primers(PCR-SSP)in 106 histologically confirmed breast cancer cases and 116 cancer-free controls.Results:The genotype frequencies of rs1219648 TT,TC,and CC were 50%,25.47%.and 24.53% in breast cancer cases and 29.31%,48.28%,and 22.41% in the controls.The gene frequencies of T in breast cancer cases and the controls were 62.74% and 53.45%.respectively.The gene frequencies of C were 37.26% and 46.55%.respectively.The distribution of allele and genotype frequencies of FGFR2 rs1219648 was statistically different between breast cancer cases and the controls(P<0.05).Conclusion:FGFR2 rs1219648 polymorphism influences the susceptibility of breast cancer.TT genotype might serve as a risk factor for breast cancer.