散发性乳癌WIF-1基因启动子区多态性研究

目的探讨WIF-1基因启动子区rs58172684 A/G与rs2336433 C/T位点单核苷酸多态性与散发性乳癌发生的关系。方法采用等位基因特异性扩增（ASA）法对200例乳癌病人和200例正常对照者的WIF-1基因启动子区rs58172684 A/G与rs2336433 C/T位点单核苷酸多态性进行分析,PCR产物进行测序。结果乳癌病人WIF-1基因启动子区rs58172684 A/G与rs2336433 C/T位点基因型频率与正常对照者比较差异具有显著性（χ2=117.475、38.798,P〈0.001）;乳癌病人rs58172684 G等位基因频率显著高于正常对照者（χ2=11.620,P〈0.001）。rs58172684 A/G位点AA、AG、GG等3种基因型和rs2336433 C/T位点CC、CT、TT等3种基因型与年龄、病理分级、组织分型及淋巴结转移无关（P〉0.05）。结论乳癌病人WIF-1基因启动子区rs58172684 A/G与rs2336433 C/T单核苷酸多态性可能与散发性乳癌的发生相关,G等位基因可能为其发生的遗传危险因素。

POLYMORPHISM OF WIF-1 GENE PROMOTER IN SPORADIC BREAST CANCER

Objective To investigate the relationship between a single nucleotide polymorphism of WIF-1 gene promoter rs58172684 A/G and rs2336433 C/T site,and the occurrence of sporadic breast cancer. Methods Allele specific amplification（ASA） was used to analyze the single nucleotide polymorphism of WIF-1 gene promoter rs58172684 A/G and rs2336433 C/T site among 200 cases of sporadic breast cancer and 200 samples of normal controls,and the PCR products were sequenced. ResultsThe frequency of WIF-1 gene promoter genotypes rs58172684 A/G and rs2336433 C/T of samples of patients with sporadic breast cancer were significantly different from that of the controls（χ2=117.475,38.798;P〈0.001）.The frequency of allele gene G of WIF-1 gene promoter rs58172684 site was significantly higher than that of the controls（χ2=11.620,P〈0.001）.The frequency of allele containing genotypes（AA,AG,GG;CC,CT,TT） was not significantly correlated with the age,clinical stage,histological grades and the number of lymph node metastasis in the patients（P〉0.05）. Conclusion The single nucleotide polymorphism of WIF-1 gene promoter rs58172684 A/G and rs2336433 C/T site might be correlated with the development of sporadic breast cancer,and G allele may be a genetic risk factor of this cancer.