HLA-Ⅰ基因单核苷酸多态性与中国南方汉族女性乳腺癌易感性的相关性研究  

Association study between single nucleotide polymorphisms of HLA-Ⅰ and susceptibility of breast cancer in southern China

作　　者：佟琳[1] 杨学习[2] 李粉霞[2] 孙敏英[2] 刘民锋[1] 董建宇[1] 郭昭泽[1] 叶长生[1] 

机构地区：[1]南方医科大学南方医院乳腺科,广州510515 [2]南方医科大学生物技术学院抗体工程研究所,广州510515

出　　处：《中国免疫学杂志》2012年第12期1096-1102,共7页Chinese Journal of Immunology

基　　金：广州市科技攻关计划(2008A1-E4151);教育部博士点基金(20104433120016)资助

摘　　要：目的:探讨位于白细胞抗原复合体基因HLA-Ⅰ区域的17个单核苷酸多态性位点与中国南方汉族女性乳腺癌易感性的相关性。方法:应用Sequenom MassArray iPLEX检测系统对所选位点在267例乳腺癌患者和274例健康对照女性中进行基因分型分析。χ2检验分析各位点基因型分布频率在病例组和对照组中的差异,非条件Logistic回归评价多态性位点与乳腺癌遗传易感性的相关性。另外,根据临床治疗中癌组织ER、PR和HER-2状态进行分层分析。结果:所选位点在中国南方汉族女性中均存在多态性,其中rs9260682遗传多态性与乳腺癌易感性显著相关,与AA基因型相比,AT基因型可增加携带者乳腺癌的患病风险(P=0.04),且与HER-2阴性乳腺癌相关(P=0.04);rs9260734位点多态性分布在病例-对照分组中无显著性差异(P=0.25),但AA基因型与PR阴性乳腺癌相关(P=0.048);其余位点与乳腺癌易感性、ER、PR和HER-2状态均无显著相关性。结论:位于HLA-Ⅰ基因区域的多态性位点rs9260682既与乳腺癌易感性相关,又与HER-2阴性乳腺癌相关,而rs9260734位点的AA基因型与PR阴性乳腺癌相关。Objective：To investigate whether Human Leukocyte Antigen-Ⅰ（HLA-Ⅰ） gene 17 single nucleotide polymorphisms（SNPs） are associated with breast cancer in southern China.Methods：17 SNPs from HLA-Ⅰwere detected via Sequenom MassArray system.The genotype and allele frequencies were analyzed by Chi-square test in both groups.Logistic regression analyzes the associations between the susceptibility of breast cancer and genotypes.Divided analysis was further carried according to the status of ER,PR and HER-2.Results：All of these 17 SNPs have polymorphism among the detected population.The risk of developing breast cancer in the AT carriers of rs9260682 was significantly higher than that carriers of AA（P=0.04）.Furthermore,rs9260682 was also associated with HER-2 status（P=0.04）.The polymorphism of rs9260734 was not related to susceptibility of breast cancer（P=0.25）,but the carriers of AA in rs9260734 were related to PR status（P=0.048）.Conclusion：The polymorphism of rs9260682 is associated with the susceptibility to sporadic breast cancer in southern China and also is related to the HER-2 status,while the carriers of AA in rs9260734 is associated with the PR status.

关 键 词：HLA-Ⅰ 单核苷酸多态性 乳腺癌 易感性 

分 类 号：R392[医药卫生—免疫学]