Identification of interaction between sex chromosomes and HLA in central nervous system autoimmune diseases

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K07464
• 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: Kyushu University
• Principal Investigator: Isobe Noriko 九州大学, 医学研究院, 教授 (60452752)
• Co-Investigator(Kenkyū-buntansha): 松下 拓也 九州大学, 大学病院, 講師 (00533001)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 多発性硬化症 / 疾患感受性遺伝子 / HLA

Outline of Final Research Achievements

Genetic studies conducted in the field of multiple sclerosis (MS) identified the association of a single nucleotide polymorphism (SNP) on X chromosome, locating close to the CD40LG gene. This study aimed to identify the association of the SNP in our Japanese cohort. We revealed that, although the SNP was not associated with MS susceptibility in female, it was associated with MS susceptibility in men with statistical significance. This study in Japanese case-control cohort replicated the association of the MS-associated SNP found in Northern European population. The functional rationale why the association was only replicated in men is to be studied further in future.

Free Research Field

神経免疫学

Academic Significance and Societal Importance of the Research Achievements

本研究では、日本人コホートにおいて欧米白人コホートで同定されていたX染色体上のMS発症関連遺伝子領域の関連性について再現性を確認した初めての研究であり、かつ、発症に性差のあるMSにおいて性別による関連性の違いを見出した点においても興味深く、学術的意義がある。その他の性差を有する自己免疫性疾患やその他の疾患についても広く関連する事象であるか等検討する契機ともなり、社会的意義もあると考える。