Development of a high-performance system for disease risk prediction on GWAS summary statistics

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K10439
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 58030:Hygiene and public health-related: excluding laboratory approach
• Research Institution: Tohoku University
• Principal Investigator: Narita Akira 東北大学, 東北メディカル・メガバンク機構, 助教 (50459468)
• Co-Investigator(Kenkyū-buntansha): 田宮 元 国立研究開発法人理化学研究所, 革新知能統合研究センター, チームリーダー (10317745)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: ゲノムワイド関連解析

Outline of Final Research Achievements

The aim of the study is to establish the basis for a high-performance disease risk prediction system, based on summary statistics of genome-wide association analysis (GWAS).
GWAS is a statistical genetic approach in which genetic variants are tested for association with a health-related trait to detect disease-causing variants. In the study, we conducted GWAS on a range of traits/diseases using the data from the Tohoku Medical Megabank Project Community-Based Cohort Study and in collaboration with other (both domestic and international) research institutions, and assessed the predictive ability of polygenic risk scores, which were calculated from the GWAS summary statistics, for various diseases.

Free Research Field

遺伝統計学

Academic Significance and Societal Importance of the Research Achievements

本研究を通じて、国内外のゲノムコホート/バイオバンクで実施されたGWASの結果を幅広く収集し、より大規模、より多様な民族集団のデータを統合することが、疾患原因遺伝子多型の探索や疾患リスク予測の精度向上に重要であることが示された。
さらに、多様な民族集団を対象としたゲノム医学研究は、医療アクセスに関する、民族集団間の不平等な状況を是正し、次世代医療システムの恩恵を広くもたらすと考えられ、本研究はその先進的な取組みの一つと位置付けられる。