FGFR2基因rs2981582位点单核苷酸多态性与乳腺癌易感性的关系

Relationship between polymorphism of fibroblast growth factor receptor 2 rs2981582 and susceptibility of breast cancer

目的探讨成纤维细胞生长因子受体2(FGFR2)基因rs2981582位点单核苷酸多态性(SNP)与乳腺癌易感性之间的关系。方法对193例乳腺癌患者和150例正常女性进行病例对照研究,采用DNA直接测序法同时检测其FGFR2基因第二内含子的SNP位点rs2981582的基因及基因型。结果乳腺癌患者FGFR2基因rs2981582位点的基因分布频率与正常女性相比,P>0.05;对该位点的基因分布频率与乳腺癌雌激素受体(ER)表达状态进行分析后发现,等位基因T的频率在ER阳性乳腺癌患者中为43.93%,在正常女性中为34.67%,两者相比,P<0.05(OR为1.476)。结论 FGFR2基因第2内含子rs2981582位点的SNP与ER阳性乳腺癌的发生显著相关,携带等位基因T的个体患病风险增加。

Objective To study the relationship between single nucleotide polymorphism （SNP） of fibroblast growth factor receptors 2 （ FGFR2, rs2981582 ） and the susceptibility of breast cancer in Chinese women. Methods Case-con- trol study was performed in 193 histological confirmed breast cancer eases and 150 cases of normal women as controls. rs2981582 of FGFR2 gene mad its genetype were determined by PCR-direet sequencing. Results There were no significant differences in the allele frequencies of rs2981582 C/T of FGFR2 gene between cases and controls （P 〉 0.05 ）. The gene frequency distribution and the expression of estrogen receptor （ER） in breast cancer were further analyzed. The minor al- lele T frequency of rs2981582 was 43.93% of cases whereas 34.67% of controls, the allele frequencies in the cases were significantly different from those of the controls （ P 〈 0.05 ）, the odds ratio （ OR = 1. 476 ） also showed a higher risk of breast cancer in individuals carrying the minor alleles. Conclusion The FGFR2 polymorphism rs2981582 C/T may con- tribute to the susceptibility of breast cancer with ER positive in Chinese women.