乳腺癌易感基因相互作用蛋白1基因功能区单核苷酸多态性与宫颈癌的相关性研究

目的：探讨乳腺癌易感基因相互作用蛋白1基因（BRIP1）功能区5个单核苷酸多态性（SNP）位点与宫颈癌的相关性。方法严格按照诊断标准，采集无亲缘关系宫颈癌患者309例（病例组）及健康体检者（对照组）315名静脉血，提取基因组DNA，采用基质辅助激光解吸电离飞行时间质谱技术检测5个SNP的基因型，采用SPSS11.5及Haploview4.2软件分析各基因型、等位基因及单倍型频率在两组中的差异。结果宫颈癌组与正常对照组的BRIP1基因rs4986764（外显子18）及rs7213430（3＇非翻译区）位点基因型及等位基因频率分布差异有统计学意义（P〈0.05）。宫颈癌组rs4986764位点C等位基因频率显著高于对照组（P=0.036，OR=1.294，95%=1.017-1.647）；宫颈癌组 rs7213430位点 A 等位基因频率显著高于对照组（P=0.003，OR=1.435，95%CI=1.133-1.818）。连锁不平衡分析发现一个单倍型（rs11079454-rs7213430-rs4986763）高度连锁（D＇〉0.9），宫颈癌组T-A-C单倍型频率显著高于对照组（P=0.018）。结论 BRIP1基因功能区rs4986764及rs7213430 SNP位点可能与宫颈癌有关，携带有rs4986764 C等位基因及rs7213430 A等位的个体可能更容易患宫颈癌。

The association of the single nucleotide polymorphism in functional region of BRCA1-interacting protein 1 (BRIP1) with cervical cancer

Objective To investigate the association between 5 single nucleotide polymorphisms （SNP） of the BRCA1-interacting protein 1 （BRIP1） and the risk of cervical cancer. Methods The participants enrolled in this study included 309 patients with cervical cancer and 315 healthy women as healthy controls. Blood samples were drawn from these participants to collect BRIP1 gene DNA;then 5 SNPs （rs2048718, rs4986764, rs4986763, rs11079454, rs7213430） of the BRIP1 gene was analyzed by using the MassARRAY system and compared by SPSS11.5 and Haploview 4.2 software. Results The genotype and allele frequency of rs4986764 （exon 18） and rs7213430（3＇UTR） were significantly different between patients with cervical cancer and healthy controls（P〈0.05）. Compared with healthy controls, patients with cervical cancer had higher frequency of rs4986764 C allele（P=0.036, OR=1.294, 95%CI： 1.017-1.647）and rs7213430 A allele（P=0.003, OR=1.435, 95%CI： 1.133-1.818）. Strong linkage disequilibrium was observed in one block （D＇〉0.9）, and more T-A-C haplotypes （block 1） were found in patients with cervical cancer （P=0.018）. Conclusion These findings indicates that the BRIP1 gene polymorphisms （rs4986764 and rs7213430） may be related to cervical cancer. The rs4986764 C allele and rs7213430 A allele may be the risk factor for cervical cancer.