Genetic and molecular epidemiology study of GWAS-identified pancreatic cancer-associated GP2 gene

2023 Fiscal Year Final Research Report

• Project/Area Number: 21H03186
• Research Category: Grant-in-Aid for Scientific Research (B)
• Allocation Type: Single-year Grants
• Section: 一般
• Review Section: Basic Section 58020:Hygiene and public health-related: including laboratory approach
• Research Institution: Aichi Medical University
• Principal Investigator: LIN YINGSONG 愛知医科大学, 医学部, 教授 (50340302)
• Co-Investigator(Kenkyū-buntansha): 中杤 昌弘 名古屋大学, 医学系研究科(保健), 准教授 (10559983) ; 櫻井 美佳 東北大学, 東北メディカル・メガバンク機構, 准教授 (80508359)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 膵がん / ゲノムワイド関連解析 / 遺伝子多型

Outline of Final Research Achievements

We conducted genetic and epidemiologic analyses focusing on our GWAS-identified pancreatic cancer susceptibility gene GP2. Fine mapping suggested that the lead variant rs78193826 in the GP2 region is a variant specific to Asians, including Japan. In the pancreatic cancer GWAS, genetic variants in four genomic regions (13q22.1, 9q34.2, 16p12.3, and 1p13.2) were significantly associated with pancreatic cancer risk. In terms of clinical utility, plasma GP2 concentrations were significantly increased in the pancreatic cancer patients, and the concentration further increased with clinical stage.These findings suggest that GP2 variant may play a role in the pathophysiology of pancreatic cancer in Japanese people. Further studies are needed to confirm its clinical significance as a risk or diagnostic biomarker.

Free Research Field

がん疫学

Academic Significance and Societal Importance of the Research Achievements

膵がんは、発生要因の大部分が不明で、早期発見が依然として困難である。そのため、新しい視点に立った膵がん発症における遺伝・環境要因の解明やハイリスク者の同定が急務である。ゲノムワイド関連解析で同定された膵がん感受性遺伝子GP2にフォーカスした本研究の成果は、膵がん病態生理の理解を深めるとともに、ハイリスク者の同定による膵がんの早期発見や発症予防に役立つものと考えられる。