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.
出处
《中国免疫学杂志》
CAS
CSCD
北大核心
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
关键词
HLA-Ⅰ
单核苷酸多态性
乳腺癌
易感性
HLA-Ⅰ
Single nucleotide polymorphisms
Breast cancer
Susceptibility
