孙占东 刘嘉 曾庆琪

摘要：目的 从系统生物学角度挖掘基因与4种中医体质（湿热质、血瘀质、特禀質、痰湿质）的相关性，探究体质形成及体病相关的微观机理，为体质分类及体病相关理论提供生物学依据。方法 计算机检索中国知识资源总库（CNKI）、中国学术期刊数据库（万方数据）建库至2016年12月31日收录的中医体质与基因表达相关文献。收集4种中医体质的差异表达基因，分别采用DAVID数据库进行富集分析，包括基因组织富集分析、疾病分析、GO分析及通路分析。对DAVID数据库分析结果进行下载整理。结果 4种中医体质在基因层次上存在较大差异，每种体质显著富集的基因功能、活性、通路、相关疾病、表达位置等均有特异性。基因表达模式不同，导致体质对疾病易感性及倾向性的差异。结论 本研究提示中医体质形成的实质是基因表达模式的差异，病理变化由其改变所致。

关键词：中医体质；体病相关；基因；富集分析

DOI：10.3969/j.issn.1005-5304.2018.09.022

中图分类号：R2-05；R229 文献标识码：A 文章编号：1005-5304（2018）09-0091-05

Abstract： Objective To dig the correlation between genes and four TCM constitutions （phlegm-dampness， blood stasis， allergy， and dampness-heat）； To analyze microscopic mechanism of constitution formed and constitution-disease correlation； To provide biological basis for TCM constitution classification and constitution-disease correlation theory. Methods Literature about TCM constitutions and gene expressions in CNKI and Wanfang Database were retrieved by computers from the establishment of database to 31， December 2016. Differentially expressed genes of four TCM constitutions were collected， and DAVID database was used for enrichment analysis， including gene tissue enrichment analysis， disease analysis， GO analysis， and pathway analysis. The results of DAVID database analysis were downloaded and analyzed. Results Four TCM constitutions had differences in gene level， and each constitution had the specificity in significantly enriched gene function， activity， pathways， related diseases， and expression locations. Different patterns of gene expression led to the constitution differences in disease susceptibility and tendency. Conclusion The essence of TCM constitution formation is the change of gene expression patterns， and the pathological changes are also caused by the change.

Keywords： TCM constitutions； constitution-disease correlation； gene； enrichment analysis

随着人类疾病谱的变化，其复杂性、多样性促使个体化医疗模式成为新浪潮。中医体质学说是以研究人类各个体质特征，以个体为对象，指导疾病的预防、治疗以及养生康复的中医基础理论，与个体化医疗模式密切相关。王琦[1]提出的体质九分法被普遍认可。体质形成的微观机制是中医体质学研究必须面临的科学问题[2]。体质的形成具备个体性的物质基础，每种体质都有其特定的基因表达模式，体质宏观的差异应源于微观基因表达的差异[3]。……