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 .

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.