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

疾病的发生和/或发展可能意味着“生命系统的失败”的表现。本研究的目的是通过临床数据和基因组信息的整合，了解疾病的生命系统和发病机制。此外，将其成果应用到基础研究中，可以为最佳个体化医疗提供理论依据。在这项研究中，我们实现了东京大学医院综合临床数据和基因组信息统一的系统数据库系统的建设和实际应用。使用这个数据库系统，我们检查了许多被报道与心血管疾病和/或糖尿病相关的SNPs，并发现了新的显著SNPs。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。本研究还阐明了该KLF5单核苷酸多态性的病理生理意义。有鉴于此，本研究将临床数据与基因组信息相结合，寻找适用于个体化用药的新的有用的临床标志物及其病理生理机制。

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.