中医信息学与表型组学:症状的遗传突变与证候的生物学基础初探  

TCM informatics and phenomics:genetic mutation of symptoms and biological basis of TCM patterns

作　　者：左玲 陈建新[1] 王伟[1] 汪思佳 张昆林 ZUO Ling;CHEN Jianxin;WANG Wei;WANG Sijia;ZHANG Kunlin(Beijing University of Chinese Medlicime,Bejing 100029,China;CAS Key Laboratory of Computational Biology,Shanghai Institute ofNutrition and Health,University of Chinese Academy of Sciences,Chinese Academy of Sciences,Shanghai 200031,China;CAS KeyLaboratory of Mental Health,lnstitute of Psychology,Chinese Academy of Sciences,Beijing 100101,China;Department of Psychology,University of Chinese Academy of Sciences,Beijing100049,China)

机构地区：[1]北京中医药大学,北京100029 [2]中国科学院计算生物学重点实验室,中国科学院上海营养与健康研究所,中国科学院大学 [3]中国科学院心理健康重点实验室,中国科学院心理研究所 [4]中国科学院大学心理学系

出　　处：《北京中医药大学学报》2022年第2期140-147,共8页Journal of Beijing University of Traditional Chinese Medicine

基　　金：国家重点研发计划项目(No.2017YFC1700106);国家自然科学基金项目(No.82025036;No.82174237)。

摘　　要：基于中医信息学和表型组学思想的病-证生物学基础研究的理论和方法学框架,解读证候的遗传结构和疾病关联。挖掘中医信息学与表型组学的理论内涵,阐明中医学与表型组学之间具有相互借鉴的重要意义;从病-证关系这一难点问题入手,将证候视为一系列特定症状表型的组合,从理论与方法上探索中医信息学与表型组学的桥接点,结合文献证明这一方向的研究潜力,并以干燥综合征-阴虚证为例提出研究思路。提出一套基于中医信息学和表型组学的病-证生物学基础研究方法学框架,包括证候表型的确定;症状表型的提取、量化与组合;基因组学数据的获取与关联分析和结果解释。此框架可以挖掘出中医病-证研究中的遗传结构特异性,解读证候的遗传结构和症状与疾病关联,将有助于理解中医理论的科学本质,推动中医现代化发展。Systematic complexity of TCM syndrome restricts the knowledge of its scientific nature.In order to directly interpret the genetic structure of TCM patterns and the association between patterns and diseases,this study aimed to propose a theoretical and methodological framework for the basic study of“disease-pattern”biology based on TCM informatics and phenomics.Firstly,the theoretical connotation of TCM informatics and phenomics was discussed,and the significance of mutual reference between TCM and phenomics was clarified.Then starting with the relationship between diseases and patterns,the patterns were regarded as a specific series of symptom phenotypes;and the bridge between TCM informatics and phenomics was explored theoretically and methodically.The research potential of this direction was proved by previous research,too.Finally,the research ideas were put forward by taking Sjogren's syndrome/yin deficiency pattern as an example.A methodological framework based on TCM informatics and phenomics for the basic research of disease-pattern biology was proposed,including determination of pattern phenotype combination,extraction,quantification,and combination of phenotypes,and acquisition,association analysis and result interpretation of genomic data.The framework can demonstrate the specificity of genetic structure in the study of TCM diseases and patterns,and has been preliminarily verified.And interpret the genetic structure of patterns and the association between patterns,symptoms,and diseases,which will help to understand the scientific nature of TCM theory and promote the TCM modernization.

关 键 词：证候 表型 表型组学 中医信息学 

分 类 号：R229[医药卫生—中医基础理论]