广东汉族女性TAP2基因单核苷酸多态性与散发性乳腺癌相关性研究  

Association study between single nucleotide polymorphisms of TAP2 and susceptibility of sporadic breast cancer in Guangdong women of Han Nationality

作　　者：黎佩怡[1] 李粉霞[1] 孙敏英[1] 徐伟文[2] 杜红延[1] 杨学习[1] 

机构地区：[1]南方医科大学生物技术学院,广州510515 [2]中山大学达安基因股份有限公司,广州510665

出　　处：《中国免疫学杂志》2011年第11期997-1001,共5页Chinese Journal of Immunology

基　　金：广州市科技攻关计划项目(2008A1-E4151);南方医科大学课外科研学术活动项目(2009kw110)

摘　　要：目的:探讨TAP2(Antigen Peptide Transporter 2)基因单核苷酸多态性(single nucleotide polymorphisms,SNP)与广东汉族女性乳腺癌发生的相关性。方法:利用Sequenom系统对来自南方医科大学南方医院的216例广东汉族乳腺癌患者及216人健康对照组的TAP2中两个单核苷酸多态性位点chr6-32914099和chr6-32897933进行基因分型,并利用非条件Logistic回归进行统计分析,以95%置信区间(confidence interval,CI)的比值比(odds ratio,OR)评价多态性位点与乳腺癌的相关性。在此基础上,根据临床资料中雌激素受体(Estrogen Receptor,ER)和孕激素受体(Progesterone Receptor,PR)进行分层分析。结果:chr6-32914099位点在检测人群中存在TT、TC、CC三种多态性,chr6-32897933位点存在CC和CT两种多态性。chr6-32914099位点多态性分布在病例/对照的分布无显著性差异(P=0.36),但在ER阳/阴性分组和PR阳/阴性分组中有显著性差异,与纯合基因型相比,TC基因型和ER阴性及PR阴性乳腺癌都相关(P=0.029和P=0.038)。相对于CC纯合基因型,chr6-32897933位点TC基因型患乳腺癌的风险性增加(P=0.0001),但基因型分布在ER阳/阴性分组和PR阳/阴性分组中无显著性差异(P=0.59和P=0.46)。结论:TAP2多态性位点chr6-32897933 TC基因型患乳腺癌的风险性增加,而chr6-32914099等位基因杂合状态(TC基因型)与ER阴性及PR阴性乳腺癌相关。Objective：To investigate the relationship between single nucleotide polymorphisms（SNP） of TAP2 and susceptibility of sporadic breast cancer in Guangdong women of Han Nationality.Methods：Two SNPs（chr6-32914099 and chr6-32897933） from TAP2 were detected via Sequenom MassArray○R iPLEX System in 216 sporadic breast cancer patients and 216 healthy controls that collected from Nanfang hospital of Southern Medical University.Data was analyzed via allelic-based Logistic regression with an additive logistic model to obtain the p value.Odds ratio（OR） and 95% confidence interval（CI） were calculated to analyze the associations between the susceptibility of breast cancer and genotypes.Divided analysis was further carried according to the status of Estrogen Receptor（ER） and Progesterone Receptor（PR）.Results：Three genotypes TT,TC,and CC of chr6-32914099 were found in Han Chinese in Guangdong.The polymorphism of chr6-32914099 was not related to susceptibility of breast cancer（P=0.36） while associated with the ER and PR status（P=0.029 and P=0.038,respectively）.Two genotypes CC,TC of chr6-32897933 were found in Han Chinese in Guangdong.The relative risk of developing breast cancer in the carriers of TC was significantly higher than that in the carriers of CC（P=0.0001）.But the polymorphism was not related to the ER and PR status of breast cancer（P=0.59 and P=0.46,respectively）.Conclusion：The polymorphism of chr6-32897933 is associated with the susceptibility to sporadic breast cancer in Han Chinese women from Guangdong Province,while chr6-32914099 is associated with the ER and PR status.

关 键 词：TAP2 单核苷酸多态性 乳腺癌 易感性 

分 类 号：R392[医药卫生—免疫学]