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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 receptor2,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5rs1219648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rs1219648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 rs1219648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rs1219648多态性与乳腺癌可能具有相关性。携带FGFR2 rs1219648的TT等位基因型的人群可能更易患乳腺癌。
Objective: To investigate the association between single nucleotide polymorphism of fibroblast growth factor receptor 2 (FGFR2) gene and the susceptibility of female breast cancer in Guizhou Han population. Methods: The distribution of 5rs1219648 polymorphism of FGFR2 gene in 106 women with breast cancer and 116 normal controls was analyzed by polymerase chain reaction-sequence-specific primers (PCR-SSP). Results: The frequency of TT, TC and CC of the single nucleotide polymorphism (rs1219648) of FGFR2 gene in breast cancer patients were 50.00%, 25.47% and 24.53%, respectively, while those in the control group were 29.31%, 48.28% and 22.41 %. The frequencies of T allele in breast cancer group and control group were 62.74% and 53.45%, respectively. The frequency of C allele was 37.26% and 46.55% respectively. The frequencies of genotypes and alleles of FGFR2 rs1219648 in breast cancer group and controls The differences in the distribution of the groups were statistically significant (P <0.05). Conclusion: The single nucleotide polymorphism rs1219648 in intron 5 of FGFR2 gene may be correlated with breast cancer. People who carry the TT allele of FGFR2 rs1219648 may be more susceptible to breast cancer.