基于转录组测序技术初步筛选内蒙古特禀体质人群的差异表达基因

薛滋平 康陆佼 张亚军

[摘要] 目的 运用转录组测序技术研究内蒙古地区特禀体质与平和体质人群差异基因的表达，以期从分子水平探讨中医特禀体质的成因、特征及相关过敏性疾病的发生机制。 方法 对2015年9月～2016年9月内蒙古医科大学第一附属医院、通辽市医院以及巴彦淖尔市医院体检中心的受检者进行流行病学调查，筛选祖辈三代均生活在内蒙古地区的特禀体质和平和体质人群为研究对象，各取10例受试者外周血进行转录组测序，对所得高表达基因进行qPCR验证来反映部分差异表达基因及其相关通路与特禀体质的相关性。 结果 与平和体质比较，特禀体质的所有下调基因中，HLA-DRB1、HLA-DRB5和HLA-DQA2均富集在哮喘通路上;Toll樣受体2（TLR2）差异表达基因富集在与特禀体质关系密切的TLR信号通路上。qPCR验证发现特禀体质CPNE3基因相对表达量明显高于平和体质，差异有统计学意义（P < 0.05）。 结论 HLAⅡ类基因与特禀体质密切相关且在特禀体质中差异表达;基因TLR2参与的TLR信号通路体现了过敏性疾病的信号传导机制可能与特禀体质密切相关;CPNE3基因表达在特禀体质和平和体质中存在差异，提示两种体质间基因表达可能存在一定差异，但仍需进一步研究。

[关键词] 转录组测序技术;特禀体质;表达基因

[中图分类号] R22 [文献标识码] A [文章编号] 1673-7210（2018）12（b）-0008-05

[Abstract] Objective To study the differential gene expression in the special constitution and the moderate constitution of Inner Mongolia by using the transcriptome sequencing technology， in order to explore the genesis， characteristics and related mechanisms of allergic diseases from the molecular level. Methods From September 2015 to September 2016， the Affiliated Hospital of Inner Mongolia Medical University， Tongliao City Hospital and the Physical Examination Center of Bayanur Hospital were investigated by epidemiology. The special constitution and the moderate constitution of the three generations of ancestors living in Inner Mongolia were selected as the research objects， the peripheral blood of 10 subjects were taken for transcriptome sequencing. Group sequencing and qPCR were used to verify the correlation between some differentially expressed genes and their related pathways and special constitution. Results Compared with moderate constitution， among all down-regulated genes in special constitution， HLA-DRB1， HLA-DRB5 and HLA-DQA2 were enriched in the asthma pathway; Toll like receptor 2 （TLR2） differentially expressed genes were enriched in the TLR signaling pathway， which was closely related to the special constitution. The qPCR test showed that the relative expression of CPNE3 genes in the special constitution was higher than that in the moderate constitution， the difference was statistically significant （P < 0.05）. Conclusion HLA class Ⅱ genes are closely related to special constitution and differentially express in the special constitution; TLR signaling pathway involved by gene TLR2 reflects that the signal transduction mechanism of allergic diseases may be closely related to special constitution; CPNE3 gene expression differences in special constitution and moderate constitution， indicating that there may be some differences in the expression of the two constitutions， but further studies are needed.