荧光定量PCR分析FGFR2基因多态性与乳腺癌的相关性研究

目的 探讨成纤维细胞生长因子受体2(fibroblast growth faceor receptor 2,FGFR2)基因rs2981582位点单核苷酸多态性(single necleotide polymorhism,SNP)与乳腺癌易感性之间的关系.方法 建立新的荧光定量PCR检测rs2981582位点SNP,并对936例乳腺癌患者和471例良性乳腺疾病患者进行病例对照研究,分析该位点SNP与乳腺癌发生之间的关系.结果 对照组CC、CT、TT各基因型的例数及基因频率分别为234(49.68%)、181(38.43%)、56(11.89%).乳腺癌组总体各基因型例数及基因频率分别为426(44.56%)、400(41.84%)、130(13.60%),与对照组差异无统计学意义(P=0.183).进一步分层分析发现,雌激素受体(+)组各基因型例数及基因频率分别为189(41.27%)、202(46.12%)、67(14.63%),与对照组比较差异有统计学意义(P=0.035);而雌激素受体(-)组各基因型及基因频率分别为237(47.59%)、198(39.75%)、63(12.65%),与对照组比较差异无统计学意义(P=0.802).结论 FGFR2基因第2内含子SNPrs2981582与雌激素受体阳性乳腺癌的发生有显著关系,同时验证了用本方法检测大批量人群标本的SNP操作简便,检测耗时短,结果特异且费用较为低廉,适合于进行大规模样品的SNP快速测定.

Association of FGFR2 gene polymorphism with estrogen receptor positive breast cancer detected by fluorescent quantitative PCR

Objective To investigate the association of fibroblast growth factor receptor 2 gene (FGFR2)rs2981582 polymorphism with breast cancer in Chinese women. Methods A case-control study was performed in 936 breast cancer patients and 471 patients with benign breast diseases by using a novel fluorescent quantitative PCR method. Results The numbers and frequencies of genotypes CC, CT, and TT in the control group were 234 (49.68%), 181 (38.43%) and 56(11.89%) respectively. The numbers and frequencies of genotypes CC, CT, and TT in the breast cancer group were 426 (44.56 % ), 400 (41.84%)and 130(13. 60%) respectively. And no significant difference was found between the two groups (P=0. 183). However, stratified analysis found that the numbers and frequencies of genotypes CC, CT, TT in the estrogen receptor(ER) positive subgroup of breast cancer patients were 189(41.27%), 202(46. 12%)and 67(14.63%) respectively, and significant difference was observed compared with control group (P=0. 035). Conclusion Association was found in the single necleotide polymorphism(SNP) of the rs2981582 locus of intron 2 in FGFR2 gene between the ER positive breast cancer patients and control patients with benign breast diseases. The fluorescent quantitative PCR is a specific, easy-to-operate, low-expense method and is suitable for SNP detection in large scale samples.