title: Cross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseases.
abstract: BACKGROUND
  To implement personalized medicine, we established a large-scale patient cohort, BioBank Japan, in 2003. BioBank Japan contains DNA, serum, and clinical information derived from approximately 200,000 patients with 47 diseases. Serum and clinical information were collected annually until 2012.
  
  
  METHODS
  We analyzed clinical information of participants at enrollment, including age, sex, body mass index, hypertension, and smoking and drinking status, across 47 diseases, and compared the results with the Japanese database on Patient Survey and National Health and Nutrition Survey. We conducted multivariate logistic regression analysis, adjusting for sex and age, to assess the association between family history and disease development.
  
  
  RESULTS
  Distribution of age at enrollment reflected the typical age of disease onset. Analysis of the clinical information revealed strong associations between smoking and chronic obstructive pulmonary disease, drinking and esophageal cancer, high body mass index and metabolic disease, and hypertension and cardiovascular disease. Logistic regression analysis showed that individuals with a family history of keloid exhibited a higher odds ratio than those without a family history, highlighting the strong impact of host genetic factor(s) on disease onset.
  
  
  CONCLUSIONS
  Cross-sectional analysis of the clinical information of participants at enrollment revealed characteristics of the present cohort. Analysis of family history revealed the impact of host genetic factors on each disease. BioBank Japan, by publicly distributing DNA, serum, and clinical information, could be a fundamental infrastructure for the implementation of personalized medicine.
authors.affiliation: Laboratory of Genome Technology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Makoto
authors.initials: M
authors.lastname: Hirata
authors.affiliation: Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Kamatani
authors.affiliation: Department of Public Policy, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Nagai
authors.affiliation: Hisayama Research Institute for Lifestyle Diseases, Fukuoka, Japan.
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Kiyohara
authors.affiliation: Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Ninomiya
authors.affiliation: Department of Public Health, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
authors.forename: Akiko
authors.initials: A
authors.lastname: Tamakoshi
authors.affiliation: Department of Health Sciences, University of Yamanashi, Yamanashi, Japan.
authors.forename: Zentaro
authors.initials: Z
authors.lastname: Yamagata
authors.affiliation: RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
authors.forename: Michiaki
authors.initials: M
authors.lastname: Kubo
authors.affiliation: Department of Public Policy, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Kaori
authors.initials: K
authors.lastname: Muto
authors.affiliation: Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
authors.forename: Taisei
authors.initials: T
authors.lastname: Mushiroda
authors.affiliation: Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Murakami
authors.affiliation: Project Division of International Advanced Medical Research, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Koichiro
authors.initials: K
authors.lastname: Yuji
authors.affiliation: Division of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
authors.forename: Yoichi
authors.initials: Y
authors.lastname: Furukawa
authors.affiliation: Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Division of Genetics, National Cancer Center Research Institute, Tokyo, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Zembutsu
authors.affiliation: SNP Research Center, RIKEN Yokohama Institute, Yokohama, Japan; Department of Human Genetics and Disease Diversity, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan; Bioresource Research Center, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Tanaka
authors.affiliation: SNP Research Center, RIKEN Yokohama Institute, Yokohama, Japan; Shinko Clinic, Medical Corporation Shinkokai, Tokyo, Japan.
authors.forename: Yozo
authors.initials: Y
authors.lastname: Ohnishi
authors.affiliation: Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, USA.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Nakamura
authors.affiliation: Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Laboratory of Clinical Genome Sequencing, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan. Electronic address: kmatsuda@k.u-tokyo.ac.jp.
authors.forename: Koichi
authors.initials: K
authors.lastname: Matsuda
mesh_terms: D000368:Aged; D018070:Biological Specimen Banks; D015331:Cohort Studies; D003430:Cross-Sectional Studies; D030541:Databases, Genetic; D004194:Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D008487:Medical History Taking; D008875:Middle Aged; D057285:Precision Medicine
keywords: BioBank Japan Project; Biobank; Clinical information; Common disease; Family history