Utilizing eQTL Databases to Identify New Potential Targets in Rheumatoid Arthritis Therapy

2019 Fiscal Year Final Research Report

• Project/Area Number: 18K16140
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 54020:Connective tissue disease and allergy-related
• Research Institution: The University of Tokyo
• Principal Investigator: Tsuchida Yumi 東京大学, 医学部附属病院, 助教 (90793597)
• Project Period (FY): 2018-04-01 – 2020-03-31
• Keywords: 関節リウマチ / ゲノムワイド関連解析 / eQTL / CD83

Outline of Final Research Achievements

Genome wide association studies (GWAS) has identified many single nucleotide polymorphisms (SNPs) associated with the risk of rheumatoid arthritis (RA). Many of them do not change amino acid sequences and are presumed to contribute to the pathogenesis of RA by acting as expression quantitative trait locus (eQTL) and by influencing gene expression in certain cell types under certain conditions. In this study, the results of an eQTL study of peripheral blood immune cells recently published from our group were analyzed along with results from previously published GWAS studies to identify new potential targets for RA therapy, and their function was analyzed in vitro.

Free Research Field

膠原病学

Academic Significance and Societal Importance of the Research Achievements

従来のゲノムワイド関連解析では、疾患と関連する遺伝子の同定が可能できても、その遺伝子がどの細胞で、どのような状況で機能を発揮することにより疾患の発症に寄与しているのか同定が難しいことも多々あった。今回の研究では、eQTLカタログの情報も併せて解析することにより、GWAS遺伝子が病態の発症に寄与する細胞種・条件を推測することにより、より効率的に疾患の治療ターゲットを模索することができたと考えられる。