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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
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.
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.
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.
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.
Overview of BioBank Japan follow-up data in 32 diseases
Makoto Hirata, Akiko Nagai, Yoichiro Kamatani, Toshiharu Ninomiya, Akiko Tamakoshi, Zentaro Yamagata, Michiaki Kubo, Kaori Muto, Yutaka Kiyohara, Taisei Mushiroda, Yoshinori Murakami, Koichiro Yuji, Yoichi Furukawa, Hitoshi Zembutsu, Toshihiro Tanaka, Yozo Ohnishi, Yusuke Nakamura, BioBank Japan Cooperative Hospital Group, Koichi Matsuda
We established a patient-oriented biobank, BioBank Japan, with information on approximately 200,000 patients, suffering from any of 47 common diseases. This follow-up survey focused on 32 diseases, potentially associated with poor vital prognosis, and collected patient survival information, including cause of death. We performed a survival analysis for all subjects to get an overview of BioBank Japan follow-up data.
A total of 141,612 participants were included. The survival data were last updated in 2014. Kaplan–Meier survival analysis was performed after categorizing subjects according to sex, age group, and disease status. Relative survival rates were estimated using a survival-rate table of the Japanese general population.
Of 141,612 subjects (56.48% male) with 1,087,434 person-years and a 97.0% follow-up rate, 35,482 patients died during follow-up. Mean age at enrollment was 64.24 years for male subjects and 63.98 years for female subjects. The 5-year and 10-year relative survival rates for all subjects were 0.944 and 0.911, respectively, with a median follow-up duration of 8.40 years. Patients with pancreatic cancer had the least favorable prognosis (10-year relative survival: 0.184) and patients with dyslipidemia had the most favorable prognosis (1.013). The most common cause of death was malignant neoplasms. A number of subjects died from diseases other than their registered disease(s).
This is the first report to perform follow-up survival analysis across various common diseases. Further studies should use detailed clinical and genomic information to identify predictors of mortality in patients with common diseases, contributing to the implementation of personalized medicine.
Volume 27, Issue 3, Supplement, March 2017, Pages S22-S28
Overview of the BioBank Japan Project: Study design and profile
Akiko Nagai, Makoto Hirata, Yoichiro Kamatani, Kaori Muto, Koichi Matsuda, Yutaka Kiyohara, Toshiharu Ninomiya, Akiko Tamakoshi, Zentaro Yamagata, Taisei Mushiroda, Yoshinori Murakami, Koichiro Yuji, Yoichi Furukawa, Hitoshi Zembutsu, Toshihiro Tanaka, Yozo Ohnishi, Yusuke Nakamura, BioBank Japan Cooperative Hospital Group, Michiaki Kubo
The BioBank Japan (BBJ) Project was launched in 2003 with the aim of providing evidence for the implementation of personalized medicine by constructing a large, patient-based biobank (BBJ). This report describes the study design and profile of BBJ participants who were registered during the first 5-year period of the project.
The BBJ is a registry of patients diagnosed with any of 47 target common diseases. Patients were enrolled at 12 cooperative medical institutes all over Japan from June 2003 to March 2008. Clinical information was collected annually via interviews and medical record reviews until 2013. We collected DNA from all participants at baseline and collected annual serum samples until 2013. In addition, we followed patients who reported a history of 32 of the 47 target diseases to collect survival data, including cause of death.
During the 5-year period, 200,000 participants were registered in the study. The total number of cases was 291,274 at baseline. Baseline data for 199,982 participants (53.1% male) were available for analysis. The average age at entry was 62.7 years for men and 61.5 years for women. Follow-up surveys were performed for participants with any of 32 diseases, and survival time data for 141,612 participants were available for analysis.
The BBJ Project has constructed the infrastructure for genomic research for various common diseases. This clinical information, coupled with genomic data, will provide important clues for the implementation of personalized medicine.
March/April, 2015; September/October, 2015
Validation of Acute Myocardial Infarction Cases in the National Health Insurance Research Database in Taiwan
Background The aim of this study was to determine the validity of acute myocardial infarction (AMI) diagnosis coding in the National Health Insurance Research Database (NHIRD) by cross-comparisons of discharge diagnoses listed in the NHIRD with those in the medical records obtained from a medical center in Taiwan. Methods This was a cross-sectional study comparing records in the NHIRD and discharge notes in one medical center (DNMC) in the year 2008. Positive predictive values (PPVs) for AMI diagnoses were evaluated by reviewing the relevant clinical and laboratory data recorded in the discharge notes of the medical center. Agreement in comorbidities, cardiac procedures, and antiplatelet agent (aspirin or clopidogrel) prescriptions between the two databases was evaluated. Results We matched 341 cases of AMI hospitalizations from the two databases, and 338 cases underwent complete chart review. Of these 338 AMI cases, 297 were confirmed with clinical and lab data, which yielded a PPV of 0.88. The consistency rate for coronary intervention, stenting, and antiplatelet prescription at admission was high, yielding a PPV over 0.90. The percentage of consistency in comorbidity diagnoses was 95.9% (324/338) among matched AMI cases. Conclusions The NHIRD appears to be a valid resource for population research in cardiovascular diseases. Key words: acute myocardial infarction, NHIRD, Taiwan, validity, pharmacoepidemiology
Epidemiology of Esophageal Cancer in Japan and China
Yingsong Lin (林 櫻松), Yukari Totsuka (戸塚 ゆか里), Yutong He (贺 宇彤), Shogo Kikuchi (菊地 正悟), Youlin Qiao (乔 有林), Junko Ueda (上田 純子), Wenqiang Wei (魏 文强), Manami Inoue (井上 真奈美), and Hideo Tanaka (田中 英夫)
In preparation for a collaborative multidisciplinary study of the pathogenesis of esophageal cancer, the authors reviewed the published literature to identify similarities and differences between Japan and China in esophageal cancer epidemiology. Esophageal squamous cell carcinoma (ESCC) is the predominant histologic type, while the incidence of esophageal adenocarcinoma remains extremely low in both countries. Numerous epidemiologic studies in both countries show that alcohol consumption and cigarette smoking are contributing risk factors for ESCC. There are differences, however, in many aspects of esophageal cancer between Japan and China, including cancer burden, patterns of incidence and mortality, sex ratio of mortality, risk factor profiles, and genetic variants. Overall incidence and mortality rates are higher in China than in Japan, and variation in mortality and incidence patterns is greater in China than in Japan. During the study period (1987–2000), the decline in age-adjusted mortality rates was more apparent in China than in Japan. Risk factor profiles differed between high- and low-incidence areas within China, but not in Japan. The association of smoking and drinking with ESCC risk appears to be weaker in China than in Japan. Genome-wide association studies in China showed that variants in several chromosome regions conferred increased risk, but only genetic variants in alcohol-metabolizing genes were significantly associated with ESCC risk in Japan. A well-designed multidisciplinary epidemiologic study is needed to examine the role of diet and eating habits in ESCC risk.
食道がんの発生要因の解明を目的とした日中共同研究を実施するために、著者らは日本と中国で発表されている食道がん疫学文献をレビューした。組織型では日 中両国とも扁平上皮がんが圧倒的に多く、腺がんの頻度が非常に低い。両国で行われた多くの研究によると、喫煙と飲酒が最も重要なリスク要因であることは一 致している。しかし、がんによる負担、罹患率や死亡率、死亡の男女比、リスク要因、遺伝的感受性などの点において違いが認められる。全体に日本より中国の 食道がん罹患率及び死亡率が高く、地域による罹患率及び死亡率の差も大きい。1987年から2000年までの年齢調整死亡率の低下は、日本より中国のほう が大きかった。中国では、リスク要因は多発地域と低発地域とでは異なるが、日本では地域によるリスク要因の違いが報告されていない。中国では飲酒と喫煙と 食道がんとの関連が日本より強くない傾向がある。中国で実施されたゲノムワイド関連分析から幾つかの染色体のregionが感受性と関連すると報告しているのに対し、日本ではアルコール代謝関連遺伝子多型がリスクと有意に関連すると報告している。食事や食習慣の影響については学際的研究による検討が必要である。