Genome-wide association study of Behcet's disease in HLA-B*51/-A*26 negative patients

2022 Fiscal Year Final Research Report

• Project/Area Number: 20K09806
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 56060:Ophthalmology-related
• Research Institution: Yokohama City University
• Principal Investigator: YAMANE Takahiro 横浜市立大学, 医学研究科, 客員講師 (30714448)
• Co-Investigator(Kenkyū-buntansha): 目黒 明 横浜市立大学, 医学研究科, 特任教授 (60508802) ; 水木 信久 横浜市立大学, 医学研究科, 教授 (90336579)
• Project Period (FY): 2020-04-01 – 2023-03-31
• Keywords: ベーチェット病 / ゲノムワイド関連解析 / HLA / 疾患感受性遺伝子 / SNP

Outline of Final Research Achievements

Behcet's disease (BD) is a multifactorial disease involving both genetic and environmental factors. HLA-B*51 and HLA-A*26 are reportedly associated with BD and are major genetic factors for Behcet's disease. On the other hand, it has been suggested that genetic factors other than these HLA risk alleles are also involved in the pathogenesis of Behcet's disease. Therefore, in this study, we performed a genome-wide association study in HLA-B*51/-A*26 negative BD patients and identified several SNPs outside the HLA region that are significantly associated with BD. Functional analyses suggested that altered expressions of susceptibility genes caused by the risk alleles of the identified SNPs are involved in the development of BD.

Free Research Field

眼科学

Academic Significance and Societal Importance of the Research Achievements

本研究で同定された遺伝情報は、ベーチェット病の発症メカニズムのさらなる解明に大きく貢献すると考えられる。また、同定された遺伝情報は、ベーチェット病感受性遺伝子（分子）の機能を制御・抑制する分子標的薬の新規開発につながり、その臨床的意義は極めて大きいといえる。