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[目的]探讨着色性干皮病基因组F(XPF)rs3136189及rs1800067单核苷酸多态性(SNPs)与甘肃汉族妇女散发乳腺癌的关系。[方法 ]采用以自然人群为基础的病例对照设计,对101例乳腺癌和1∶1成组频数匹配原则获得的101例对照进行研究。基因分型采用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)分析方法,采用非条件Logistic回归模型评估各SNP基因型与乳腺癌发病风险的关联。[结果]甘肃汉族妇女人群正常对照组XPF基因SNP位点rs3136189的TT、CT和CC基因频率分别为59.41%、39.60%和0.99%,而乳腺癌组分布频率分别为53.47%、40.59%和5.94%。rs1800067正常对照组的GG、AG和AA基因频率分别为98.02%、1.98%和0,乳腺癌组分别为99.01%、0.99%、0。2个SNPs位点基因型和等位基因在两组间分布差异均无统计学意义(P>0.05)。乳腺癌患者肿瘤大小、有无淋巴结转移及ER、PR、C-erb B-2、p53和Ki67蛋白表达与rs3136189位点基因型频率分布均无相关性(P>0.05)。[结论 ]甘肃汉族妇女人群XPF基因rs3136189及rs1800067多态性位点与乳腺癌的发病风险间未发现显著性关联。
[Objective] To investigate the association of rs3136189 and rs1800067 single nucleotide polymorphisms (SNPs) in the chromosomal dry-skin disease genome F (XPF) with the sporadic breast cancer in Gansu Han women. [Methods] A case-control design based on natural population was used to study 101 cases of 101 cases of breast cancer and 1: 1 frequency matching principle. Genotyping Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis was used to evaluate the association between SNP genotypes and breast cancer risk using a non-conditional logistic regression model. [Results] The frequencies of TT, CT and CC genes of XPF gene SNP locus rs3136189 were 59.41%, 39.60% and 0.99% respectively in Han nationality women of Gansu province, while frequencies of breast cancer patients were 53.47%, 40.59% and 5.94 %. The frequencies of GG, AG and AA genes in rs1800067 normal control group were 98.02%, 1.98% and 0, respectively, and those in breast cancer group were 99.01% and 0.99% respectively. The genotypes and alleles of 0.2 SNPs in the two groups Distribution differences were not statistically significant (P> 0.05). There was no correlation between tumor size, lymph node metastasis and the frequencies of ER, PR, C-erb B-2, p53 and Ki67 in breast cancer patients and genotype frequencies of rs3136189 (P> 0.05). [Conclusion] There is no significant correlation between XPF gene rs3136189 and rs1800067 polymorphisms in Gansu Han women and the risk of breast cancer.