MICA基因标签SNP检测用于结直肠癌的关联分析  

Association analysis of MICA gene TagSNPs detection in colorectal cancer

作　　者：孙长江[1,2] 丁伟峰[2] SUN Changjiang;DING Weifeng(School of Public Health,Nantong University,Nantong,Jiangsu 226001,China;Department of Clinical Laboratory,Affiliated Hospital of Nantong University,Nantong,Jiangsu 226001,China)

机构地区：[1]南通大学公共卫生学院,江苏南通226001 [2]南通大学附属医院医学检验科,江苏南通226001

出　　处：《检验医学与临床》2022年第3期289-291,296,共4页Laboratory Medicine and Clinic

基　　金：国家自然科学基金项目(81974313);中国博士后科学基金项目(2019M651930);江苏省卫生健康委员会自然科学基金项目(M2020065)。

摘　　要：目的分析结直肠癌(CRC)与主要组织相容性复合体Ⅰ类相关基因A(MICA)基因分型的标签单核苷酸多态性(TagSNP)的遗传免疫相关因素,进而探讨MICA的TagSNP辅助诊断CRC的可行性。方法采用Sanger测序法检测104例散发性CRC患者的肿瘤组织及癌旁组织中MICA外显子2~5区单核苷酸多态性SNP,采用自动分析系统结合Chromas分析软件比对SNP位点进行分析,采用Haploview软件进行TagSNP的鉴定与分析。结果从人类主要组织相容性抗原网站的MICA基因外显子2~5区筛选出29种TagSNP。测序后Haploview分析发现,CRC组织中29种TagSNP位于1个block中,呈强连锁不平衡;536例健康对照组的连锁不平衡性稍弱于CRC组;而千人基因组连锁不平衡性更弱,且位于2个block中。进一步分析发现,其中7种TagSNP在CRC组织及健康对照组中差异有临界统计学意义(P<0.1)。结论MICA外显子2~5区7种TagSNP在CRC组织及健康对照人群中存在差异,且TagSNP之间呈强连锁不平衡,说明TagSNP具有关联分析的潜力。Objective To analyze the genetic immune-related factors of tag single nucleotide polymorphisms(TagSNPs)in colorectal cancer(CRC)and major histocompatibility complex classⅠ-related chain A(MICA)genotyping,and to investigate the feasibility of TagSNPs in MICA for the diagnosis of CRC.Methods SNPs in the 2-5 exon region of MICA were detected by Sanger sequencing in 104 patients with sporadic CRC.The SNPs were analyzed by automatic analysis system combined with Chromas software.Haploview software was used to identify and analyze TagSNPs.Results Twenty-nine TagSNPs were screened from the 2-5 exon region of MICA gene of human major histocompatibility antigen website.After sequencing,Haploview analysis showed that 29 TagSNPs in CRC tissue were located in one block,presenting strong linkage imbalance.The linkage disequilibrium of 536 healthy control group was slightly lower than that of CRC group.However,the frontal linkage imbalance of"1000 Genome Project"was weaker and located in 2 blocks.Further analysis showed that 7 TagSNPs showed critical significant differences between CRC tissue and healthy control group(P<0.1).Conclusion The 7 TagSNPs in the 2-5 exon region of MICA are different in CRC tissue and healthy control population,and there is a strong linkage between TagSNPs,indicating that TagSNPs have the potential of association analysis.

关 键 词：结直肠癌 主要组织相容性复合体Ⅰ类相关基因A 标签单核苷酸多态性 肿瘤免疫 

分 类 号：R735.3[医药卫生—肿瘤]