Cross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseases

Makoto Hirata; Yoichiro Kamatani; Akiko Nagai; Yutaka Kiyohara; Toshiharu Ninomiya; Akiko Tamakoshi; Zentaro Yamagata; Michiaki Kubo; Kaori Muto; Taisei Mushiroda; Yoshinori Murakami; Koichiro Yuji; Yoichi Furukawa; Hitoshi Zembutsu; Toshihiro Tanaka; Yozo Ohnishi; Yusuke Nakamura; BioBank Japan Cooperative Hospital Group; Koichi Matsuda

doi:10.1016/j.je.2016.12.003

Cross-sectional analysis of BioBank Japan clinical data: A large cohort of 200,000 patients with 47 common diseases

J Epidemiol. 2017 Mar;27(3S):S9-S21. doi: 10.1016/j.je.2016.12.003. Epub 2017 Feb 9.

Authors

Makoto Hirata¹, Yoichiro Kamatani², Akiko Nagai³, Yutaka Kiyohara⁴, Toshiharu Ninomiya⁵, Akiko Tamakoshi⁶, Zentaro Yamagata⁷, Michiaki Kubo⁸, Kaori Muto³, Taisei Mushiroda⁹, Yoshinori Murakami¹⁰, Koichiro Yuji¹¹, Yoichi Furukawa¹², Hitoshi Zembutsu¹³, Toshihiro Tanaka¹⁴, Yozo Ohnishi¹⁵, Yusuke Nakamura¹⁶; BioBank Japan Cooperative Hospital Group; Koichi Matsuda²⁹

Collaborators

BioBank Japan Cooperative Hospital Group:
Masaki Shiono¹⁷, Kazuo Misumi¹⁷, Reiji Kaieda¹⁷, Hiromasa Harada¹⁷, Shiro Minami¹⁸, Mitsuru Emi¹⁸, Naoya Emoto¹⁸, Hajime Arai¹⁹, Ken Yamaji¹⁹, Yoshimune Hiratsuka¹⁹, Satoshi Asai²⁰, Mitsuhiko Moriyama²⁰, Yasuo Takahashi²⁰, Tomoaki Fujioka²¹, Wataru Obara²¹, Seijiro Mori²², Hideki Ito²², Satoshi Nagayama²³, Yoshio Miki²³, Akihide Masumoto²⁴, Akira Yamada²⁴, Yasuko Nishizawa²⁵, Ken Kodama²⁵, Hiromu Kutsumi²⁶, Yoshihisa Sugimoto²⁶, Yukihiro Koretsune²⁷, Hideo Kusuoka²⁷, Takashi Yoshiyama²⁸

Affiliations

¹ Laboratory of Genome Technology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
² Laboratory for Statistical Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
³ Department of Public Policy, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
⁴ Hisayama Research Institute for Lifestyle Diseases, Fukuoka, Japan.
⁵ Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
⁶ Department of Public Health, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
⁷ Department of Health Sciences, University of Yamanashi, Yamanashi, Japan.
⁸ RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
⁹ Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
¹⁰ Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
¹¹ Project Division of International Advanced Medical Research, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
¹² Division of Clinical Genome Research, Institute of Medical Science, The University of Tokyo, Tokyo, Japan.
¹³ Laboratory of Molecular Medicine, Institute of Medical Science, The University of Tokyo, Tokyo, Japan; Division of Genetics, National Cancer Center Research Institute, Tokyo, Japan.
¹⁴ 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.
¹⁵ SNP Research Center, RIKEN Yokohama Institute, Yokohama, Japan; Shinko Clinic, Medical Corporation Shinkokai, Tokyo, Japan.
¹⁶ 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.
¹⁷ Tokushukai Hospitals, Japan.
¹⁸ Nippon Medical School, Japan.
¹⁹ Juntendo University, Japan.
²⁰ Nihon University, Japan.
²¹ Iwate Medical University, Japan.
²² Tokyo Metropolitan Institute of Gerontology, Japan.
²³ The Cancer Institute Hospital of JFCR, Japan.
²⁴ Aso Iizuka Hospital, Japan.
²⁵ Osaka Medical Center for Cancer and Cardiovascular Diseases, Japan.
²⁶ Shiga University of Medical Science, Japan.
²⁷ National Hospital Organization, Osaka National Hospital, Japan.
²⁸ Fukujuji Hospital, Japan.
²⁹ 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.

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.

Keywords: BioBank Japan Project; Biobank; Clinical information; Common disease; Family history.

MeSH terms

Aged
Biological Specimen Banks*
Cohort Studies
Cross-Sectional Studies
Databases, Genetic*
Disease / genetics*
Female
Humans
Japan
Male
Medical History Taking
Middle Aged
Precision Medicine