The development of genome-wide polygenic risk scores for the prediction of cancer risk, and the evaluation of their ability to discriminate cancer risk.

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K10655
• 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: National Cancer Center Japan
• Principal Investigator: Yamaji Taiki 国立研究開発法人国立がん研究センター, がん対策研究所, 室長 (10466203)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: がん罹患リスク予測モデル / 多因子遺伝的リスクスコア

Outline of Final Research Achievements

Supported by Grant-in-Aid for Scientific Research C, this researcher conducted a case-cohort study of 3,750 cancer cases and 13,024 sub-cohort subjects nested in a large population-based follow-up study. By using a large number of single nucleotide polymorphisms potentially related to cancer risk, this researcher constructed several kinds of genome-wide polygenic risk scores to predict cancer risk, and compared their discrimination ability based on C-index. This researcher found that, as the number of single nucleotide polymorphisms in the score increased, the discrimination ability of the score was improved. Further studies are needed to confirm the findings of this study.

Free Research Field

がん疫学

Academic Significance and Societal Importance of the Research Achievements

本研究の成果は、（1）がんの遺伝的リスクスコアを研究開発する際、がんとの関連が示唆される遺伝子多型まで含めて、がんの持つ多因子遺伝性をより反映しようと試みた点と、（２）欧米の研究に限られている状況で、日本人を対象とした研究から、欧米人とは異なった遺伝的リスクスコアを研究開発しようとした点において学術的な意義がある。また、本研究の成果は、遺伝的なハイリスク集団を同定することによって、日本人のがん予防に役立てられる可能性がある点において社会的な意義がある。