基于轉錄組測序技術初步篩選內蒙古特稟體質人群的差異表達基因

薛滋平 康陸佼 張亞軍

[摘要] 目的 運用轉錄組測序技術研究內蒙古地區特稟體質與平和體質人群差異基因的表達，以期從分子水平探討中醫特稟體質的成因、特征及相關過敏性疾病的發生機制。 方法 對2015年9月～2016年9月內蒙古醫科大學第一附屬醫院、通遼市醫院以及巴彥淖爾市醫院體檢中心的受檢者進行流行病學調查，篩選祖輩三代均生活在內蒙古地區的特稟體質和平和體質人群為研究對象，各取10例受試者外周血進行轉錄組測序，對所得高表達基因進行qPCR驗證來反映部分差異表達基因及其相關通路與特稟體質的相關性。 結果 與平和體質比較，特稟體質的所有下調基因中，HLA-DRB1、HLA-DRB5和HLA-DQA2均富集在哮喘通路上;Toll樣受體2（TLR2）差異表達基因富集在與特稟體質關系密切的TLR信號通路上。qPCR驗證發現特稟體質CPNE3基因相對表達量明顯高于平和體質，差異有統計學意義（P < 0.05）。 結論 HLAⅡ類基因與特稟體質密切相關且在特稟體質中差異表達;基因TLR2參與的TLR信號通路體現了過敏性疾病的信號傳導機制可能與特稟體質密切相關;CPNE3基因表達在特稟體質和平和體質中存在差異，提示兩種體質間基因表達可能存在一定差異，但仍需進一步研究。

[關鍵詞] 轉錄組測序技術;特稟體質;表達基因

[中圖分類號] R22 [文獻標識碼] A [文章編號] 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.