Genome-wide association study on glioma risk in Japan

2023 Fiscal Year Final Research Report

• Project/Area Number: 20K17965
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 56010:Neurosurgery-related
• Research Institution: Osaka University
• Principal Investigator: Umehara Toru 大阪大学, 大学院医学系研究科, 招へい教員 (20792469)
• Project Period (FY): 2020-04-01 – 2024-03-31
• Keywords: glioma / meningioma / genetic polymorphism

Outline of Final Research Achievements

In this multicenter prospective case-control study, we studied 401 Japanese patients with meningioma.This GWAS eventually revealed no genetic variants with genome-wide significance (P < 5×10－8) and observed no significant association in the two previously reported risk variants (rs11012732 and rs2686876) due to low minor allele frequency in the Japanese population. The strongest association was provided by SNP rs35127183 on 15q25, where the A allele was associated with the increased risk (Odds ratio, 1.63; 95% confidence interval, 1.34-1.99; P=7.0×10-7), although without genome-wide significance.

Free Research Field

Genome-wide association study

Academic Significance and Societal Importance of the Research Achievements

日本人の髄膜腫患者を対象としたGWAS研究を実施した。ゲノムワイド有意水準を満たす関連は検出されず、日本人集団に特異的な髄膜腫のリスクSNPを同定することはできなかった。また欧米から報告されているリスクSNPは日本人においてアレル頻度が極めて低いため、関連性を評価することが困難であった。しかしながら、本研究は東アジア人集団で初めての髄膜腫患者のGWASであり、今後の髄膜腫患者のGWAS研究に寄与する可能性がある。