News Releases & Research Results Elucidation of genetic characteristics associated with disease onset in Japanese people: Genetic mutation screening by genome analysis in 210,000 Japanese individuals

The results of an international collaborative research conducted by Team Leader Yoichiro Kamatani (at the time of conducting research) and Postdoctoral Researcher Kazuyoshi Ishigaki of the Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences; Deputy Director Michiaki Kubo (at the time of conducting research) of RIKEN Center for Integrative Medical Sciences; Emeritus Professor Takashi Kadowaki and Professor Toshimasa Yamauchi of the University of Tokyo; Professor Johji Inazawa of Tokyo Medical and Dental University; and others.

• In collaboration with the Tohoku Medical Megabank (TMM) Project, Japan Public Health Center-based Prospective Study (JPHC Study)*1, and Japan Multi-Institutional Collaborative Cohort Study (J-MICC study)*2, the research group conducted genome analysis in approximately 210,000 Japanese individuals using genome data from BioBank Japan. They identified 320 genetic mutations associated with 27 diseases, and confirmed the reproducibility of the important genetic variants with the cooperation of the National Cancer Center Biobank, the National Center for Geriatrics and Gerontology (NCGG) BioBank, and the Osaka Acute Coronary Insufficiency Study (OACIS)*3.
  *1: Collaborative research conducted as multi-purpose cohort study by 11 public health centers across Japan, National Cancer Center, National Cerebral and Cardiovascular Center, universities, research institutes, medical institutions, etc.
  *2: A large-scale follow-up study conducted by 13 universities and cancer centers for the purpose of establishing basic data necessary for preventive measures against cancer and other lifestyle diseases in terms of genetic predispositions in addition to lifestyle habits (central office placed at Nagoya University).
  *3: A project involving the registry of patients with acute myocardial infarction from 25 medical institutions in the Hanshin area, mainly conducted by Osaka University.
• The results of research should facilitate the understanding of disease pathology, awareness of ethnic differences in the risk of disease onset, and the development of tailor-made medicine based on individual genetic information.

This research project was conducted with the support of Tailor-Made Medical Treatment with the BioBank Japan Project (BBJ) by AMED.

The results of research were published online in Nature Genetics, a scientific journal, on June 9.