Clarification of the molecular mechanisms of pathogenesis caused by PBC susceptibility polymorphisms

2017 Fiscal Year Final Research Report

• Project/Area Number: 15K19314
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Gastroenterology
• Research Institution: The University of Tokyo
• Principal Investigator: Hitomi Yuki 東京大学, 大学院医学系研究科(医学部), 助教 (10525819)
• Project Period (FY): 2015-04-01 – 2018-03-31
• Keywords: ゲノムワイド関連解析 / 原発性胆汁性胆管炎 / 遺伝子多型

Outline of Final Research Achievements

Primary biliary cholangitis (PBC) is a chronic and cholestatic liver disease that is caused by the autoimmune destruction of bile ducts.
In this study, we identified eight susceptibility gene loci for PBC by genome-wide association study (GWAS). Additionally, disease causal variants in these loci and their molecular mechanisms for disease susceptibility in PBC were clarified using Single Nucleotide Polymorphism (SNP) imputation analysis, in silico analysis, and in vitro functional analysis.

Free Research Field

消化器内科学