Association between genetic risk for stroke and clinical characteristics in Japanese stroke patients

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K07445
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52020:Neurology-related
• Research Institution: Nippon Medical School
• Principal Investigator: Shimoyama Takashi 日本医科大学, 医学部, 講師 (00509325)
• Co-Investigator(Kenkyū-buntansha): 木村 和美 日本医科大学, 大学院医学研究科, 大学院教授 (00388927) ; 鎌谷 洋一郎 東京大学, 大学院新領域創成科学研究科, 教授 (00720880) ; 山口 博樹 日本医科大学, 医学部, 大学院教授 (90297937) ; 松田 浩一 東京大学, 大学院新領域創成科学研究科, 教授 (90401257)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: ゲノム解析 / 疫学 / 脳梗塞 / バイオバンクジャパン

Outline of Final Research Achievements

Previous multi-ancestry genome-wide association studies (GWAS) of stroke reported 32 stroke risk loci in the MEGASTROKE. We examined 19,702 Japanese patients with ischemic stroke to explore the association among genetic risk score (GRS), clinical characteristics, and mortality in the BioBank Japan (BBJ) database. The OR for atrial fibrillation was significantly higher in those at Intermediate GRS [OR 1.59 (1.25-1.90)] and High GRS [OR 2.12 (1.69-2.67)] than in those at Low GRS. Regarding stroke etiology, the ORs for cardioembolism were significantly higher in those at Intermediate GRS [OR 1.31 (1.04-1.61)] and High GRS [OR 1.44 (1.13-1.89)] than in those at Low GRS. During a median follow-up of 10.0 years, the risk of stroke mortality was significantly higher in those at High GRS [HR 1.27 (1.04-1.56)] than in those at Low GRS in a fully adjusted model. In Japanese, a higher GRS was significantly associated with atrial fibrillation, cardioembolism, and stroke mortality.

Free Research Field

脳血管障害

Academic Significance and Societal Importance of the Research Achievements

日本人において、GRS高値は心房細動、心原性脳塞栓症、および脳卒中死亡率と有意に関連していることを見出した。本研究よりGRSが脳卒中死亡率のリスクや脳梗塞病型を予測する可能性があり臨床的意義が高いと考える。現在、原著論文を国際学術誌に投稿中である。