HMGB1基因3个多态位点与汉族群体乳腺癌易感性的关联  

Association between Three Polymorphisms Loci of HMGB1 and the Susceptibility of Breast Cancer in Han Chinese Population

作　　者：张明龙[1] 赵大龙 董静[1] 张奇兵[3] 王秀华[1] 薛璟[4] 马洪星[3] 潘洪明[4] 郑立红[1] 

机构地区：[1]齐齐哈尔医学院生物遗传教研室,齐齐哈尔161006 [2]齐齐哈尔市建华医院,齐齐哈尔161006 [3]大庆油田总医院普外科,大庆163411 [4]齐齐哈尔医学院生物化学教研室,齐齐哈尔161006

出　　处：《基因组学与应用生物学》2017年第8期3297-3303,共7页Genomics and Applied Biology

基　　金：黑龙江省教育厅科学技术研究项目(12541903)资助

摘　　要：为了探讨HMGB1基因rs2249825、rs1412125和rs1045411的多态性与汉族女性乳腺癌易感性的关联性,本研究应用聚合酶链式反应-连接酶反应技术检测524例乳腺癌和518例正常对照组。我们发现rs2249825、rs1412125和rs1045411位点的等位基因频率和基因型分布在两组间比较无显著性差异(p>0.05),单倍型C-T-A的分布频率在两组间具有显著性差异(11.80%vs 8.96%,p=0.045),校正混杂因素后该单倍型对乳腺癌的风险预测值为1.37(95%CI:0.97-1.93)。研究表明HMGB1基因的rs2249825、rs1412125和rs1045411位点多态性可能与乳腺癌的发病风险无关,所构成的单倍型C-T-A与乳腺癌患病的风险性具有潜在的关联性。本研究所得数据为本地区群体的乳腺癌易感基因的筛选以及评估易感基因对患病的风险程度提供参考数据,为乳腺癌的防治、诊断和个体化治疗研究提供了帮助。To investigate the association between the polymorphisms ofrs2249825, rs1412125 and rs1045411 in the HMGB1 gene and the susceptibility of breast cancer in females of Han Chinese, we used PCR-LDR method to detect 524 patients with breast cancer and 518 cancer-free controls. We found that the allele frequencies and genotype distributions of rs2249825, rs1412125 and rs1045411 had no significant differences between the two groups （p〉0.05）, the distribution frequencies of haplotype C-T-A were significantly different between the two groups （11.80% vs 8.96%, p =0.045）, and the predicted risk value of the haplotype to breast cancer was 1.37 （95% CI： 0.97-1.93） after correction. Studies showed that the polymorphisms of rs2249825, rs1412125 and rs1045411 loci might be unrelated to the risk of breast cancer, but haplotype C-T-A might have potential relevance with the risk of breast cancer. The data of this study would provide reference for screening breast cancer predisposing genes and assessing their risk of breast cancer in this region And these data would also be helpful for the prevention, diagnosis and individual treatment of breast cancer.

关 键 词：乳腺癌 HMGB1 多态性 单倍型 

分 类 号：R737.9[医药卫生—肿瘤]