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2022 Fiscal Year Final Research Report

The risk estimation of multiple sclerosis using Mendelian randomization

Research Project

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Project/Area Number 20K16600
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52020:Neurology-related
Research InstitutionOsaka University

Principal Investigator

Ogawa Kotaro  大阪大学, 大学院医学系研究科, 助教 (80870500)

Project Period (FY) 2020-04-01 – 2023-03-31
Keywordsゲノムワイド関連解析 / メンデルランダム化解析
Outline of Final Research Achievements

We studied a total of 605 patients with multiple sclerosis of Japanese ancestry and 50,484 controls. The genetic variant in the major-histocompatibility-complex (MHC) region was associated with the disease with a genome-wide significance, which has been reported in Europeans. We then conducted a trans-ethnic genome-wide association study using the results of IMSGC GWAS summary statistics. No novel associations were found in this study. We conducted a GWAS study including 220 patients with neuromyelitis optica spectrum disorder and 50,484 controls. In addition to the MHC region, we identified a novel association region in CCR6 on chromosome 6.

Free Research Field

神経内科学

Academic Significance and Societal Importance of the Research Achievements

日本人多発性硬化症、視神経脊髄炎における過去最大のゲノムワイド関連解析を実施した。多発性硬化症では欧米人同様MHC領域が最も強い関連を有し、人種を超えて同領域が疾患の発症に重要であることが示された。視神経脊髄炎については新規の疾患感受性遺伝子であるCCR6を同定した。CCR6はIL17産生T細胞に発現することが知られており、IL17産生T細胞と視神経脊髄炎発症との関連が示唆された。今回はコントロールサンプル重複の問題があり、既存のメンデルランダム化解析手法では形質と疾患の間で正確な因果関係の推定が困難であった。サンプル重複の補正が可能なメンデルランダム化解析手法の開発の必要性が示された。

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Published: 2024-01-30  

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