The systematic analysis on the diseases through the integration of the clinical data with the genomic information

疾病的发生和/或进展可能意味着“生命系统的失败”的表达。本研究的目的是通过临床数据与基因组信息的整合，了解疾病的生命系统和机制。此外，将其结果应用于基础研究，我们可以得到最佳个体化医疗的理论依据。在本研究中，我们实现了统一东京大学医院综合临床数据和基因组信息的系统化数据库系统的构建和实际应用。利用这个数据库系统，我们检查了许多与心血管疾病和/或糖尿病相关的snp，并发现了新的显著snp。例如，转录因子KLF5启动子区域的SNP在这里被证明与心血管分析的进展有关。本研究也阐明了该KLF5 SNP的病理生理意义。因此，本研究将临床数据与基因组信息进行整合，寻找新的有用的临床标志物和病理生理机制，并将其应用于个体化医疗。

The onset and/or progression of the diseases could mean the expression of the "failure of the life system". The purpose of this study is to understand the life system and the mechanism of the diseases through the integration of the clinical data with the genomic information. In addition, applying its outcomes to the basic research, we could get the theoretical rationale for the best individualized medicine. In this study, we realized the construction and practical use of the systematic database system unifying the comprehensive clinical data and genomic information in the University of Tokyo Hospital. Using this database system, we examined many SNPs which were reported to be associated with cardiovascular diseases and/or diabetes, and identified novel significant SNPs. For example, the SNP in the promoter region of transcription factor KLF5 is here demonstrated to be related to the progression of cardiovascular analysis. The pathophysiological meaning of this KLF5 SNP was also clarified in this study. Like this, in this study, the integration of the clinical data with the genomic information was performed to find out the novel useful clinical markers as well as the pathophysiological mechanisms, both of which are applicable to the individualized medicine.