2023 Fiscal Year Final Research Report

International collaborative study on the genetic factors that regulate serum urate levels in humans: clinico-genetic analyses and functional studies focusing on urate transporters

Research Project

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Project/Area Number	21KK0173
Research Category	Fund for the Promotion of Joint International Research (Fostering Joint International Research (B))
Allocation Type	Multi-year Fund
Review Section	Medium-sized Section 58:Society medicine, nursing, and related fields
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、共同利用研究施設、病院並びに防衛, 分子生体制御学, 教授 (00528292)
Co-Investigator(Kenkyū-buntansha)	関根舞東京薬科大学, 薬学部, 助教 (40881496) 豊田優防衛医科大学校(医学教育部医学科進学課程及び専門課程、動物実験施設、共同利用研究施設、病院並びに防衛, 分子生体制御学, 講師 (80650340) 宮田大資東京大学, 医学部附属病院, 助教 (90844415)
Project Period (FY)	2021-10-07 – 2024-03-31
Keywords	尿酸 / 高尿酸血症 / 痛風 / GWAS / 国際共同研究
Outline of Final Research Achievements	Recent advances in genomic research have accelerated the understanding of genetic factors that regulate serum urate levels in humans. However, the whole picture of the genetic factors remains to be elucidated. To address this issue, we, Japanese researchers, have organized an international collaborative research. The research period was from October 2021 to March 2024. To achieve the goal of this proposal, we conducted clinico-genetic analyses in combination with functional studies for urate transporters. We believe that our results obtained in this study will improve understanding of the genetic factors regulating uric acid levels in humans. Also, they also have the potential to contribute to the provision and utilization of more useful information in medical treatment and prevention based on individual genomic differences, and further developments are expected in the future.
Free Research Field	分子遺伝疫学
Academic Significance and Societal Importance of the Research Achievements	血清尿酸値、ひいては痛風に代表される尿酸関連疾患リスクの遺伝要因には、依然として不明な点が多く、その全貌解明に向けた研究の推進には社会的にも大きな関心が払われてきました。本国際共同研究は、この課題を解決するための一助となるべく企画された２年半研究であり、痛風リスクや血清尿酸値の個人差に関連する遺伝要因のさらなる理解に貢献する多くの知見を得ることに成功しました。得られた成果は、痛風の発症メカニズムの解明や創薬へと繋がりうるのみならず、ゲノムの個人差に基づく医療・予防においてより有用な情報の提供・活用に資する可能性を秘めており、今後のさらなる発展が期待されます。