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2023 Fiscal Year Final Research Report

Identification and functional analysis of novel type 1 diabetogenic genes in the Japanese population by next-generation sequencing

Research Project

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Project/Area Number 21K08567
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 54040:Metabolism and endocrinology-related
Research InstitutionKindai University

Principal Investigator

Noso Shinsuke  近畿大学, 医学部, 准教授 (90460849)

Co-Investigator(Kenkyū-buntansha) 池上 博司  近畿大学, 医学部, 教授 (20221062)
馬場谷 成  近畿大学, 医学部, 講師 (10449837)
廣峰 義久  近畿大学, 医学部, 講師 (30460851)
Project Period (FY) 2021-04-01 – 2024-03-31
Keywords1型糖尿病 / 次世代シーケンス法 / 遺伝学
Outline of Final Research Achievements

Japanese type 1 diabetes has a lower prevalence and higher familial clustering than in the West. In Japan, rare and strong genetic variants may contribute to the development of type 1 diabetes rather than common variants that have a small effect on the development of the disease. This study aims to identify rare mutations that are common in the families with type 1 diabetes by next-generation sequencing, and to clarify the basis of genetic predisposition specific to Japan. We identified a rare HLA haplotype DRB1*08:02-DQB1*03:02 in the general population with a robust odds ratio in familial type 1 diabetes mellitus, which confirms our hypothesis. We also found novel variants of previously known disease susceptibility genes in several families, which is an achievement.

Free Research Field

糖尿病、遺伝学、自己免疫

Academic Significance and Societal Importance of the Research Achievements

1型糖尿病は発症した時点で生命維持に必須なインスリン分泌が欠損しているため、現状国内での治療はインスリン注射による補充療法か、移植療法に限られており、発症機序に直接介入することができない。本研究により我が国特有の1型糖尿病の遺伝素因を解明し、発症に寄与する遺伝子変異を同定することができれば、未発症者の発症リスクや発症後のインスリン分泌能低下の進展リスクをスコア化することが可能となる。さらに遺伝子変異が発症に関わる機序を解明することにより、単なるインスリン補充療法に留まらず発症機序に直接介入する治療法の確立につながる基盤情報となる。

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Published: 2025-01-30  

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