Investigation of pathophysiology of gout by molecular genetic epidemiological analysis and application to genome-tailored medicine

2016 Fiscal Year Final Research Report

• Project/Area Number: 25293145
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Partial Multi-year Fund
• Section: 一般
• Research Field: Epidemiology and preventive medicine
• Research Institution: National Defense Medical College
• Principal Investigator: Matsuo Hirotaka 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究, その他部局等, 講師 (00528292)
• Co-Investigator(Kenkyū-buntansha): 四ノ宮 成祥 防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究, その他部局等, 教授 (40505260) ; 山本 健 久留米大学, 医学部, 教授 (60274528)
• Co-Investigator(Renkei-kenkyūsha): HAMAJIMA NOBUYUKI 名古屋大学, 大学院・医学系研究科, 教授 (30172969) ; ICHIDA KIMIYOSHI 東京薬科大学, 病態生理学, 教授 (80183169) ; TAKADA TAPPEI 東京大学, 薬学部, 講師 (90376468)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 分子遺伝疫学 / 予防医学 / 個人差医療 / 尿酸 / 遺伝統計学 / 個人差医療に基づく予防医学

Outline of Final Research Achievements

In this study, we collected a large number of genome samples and clinical information from gout/hyperuricemia cases and controls, and conducted genome-wide association analyses for all and subtype-divided participants. Also, we performed molecular functional analyses on those encoded by the identified gout/urate-associated genes, and investigated their genetic association with gout/hyperuricemia. From these studies, we identified ten loci which included subtype specific ones. Furthermore, we revealed that the dysfunctional variants of urate exporter ABCG2 gene have a large effect on gout progression not only for each individual, but also for Japanese population. In other words, we elucidated possibilities of screening a high-risk population by genotyping, and also clarified potentialities of personalized medicine based on their variants.

Free Research Field

医歯薬学