Exploring biomarker and disease-associated gene in pediatric patients with autoimmune liver disease

2023 Fiscal Year Final Research Report

• Project/Area Number: 21K07832
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 52050:Embryonic medicine and pediatrics-related
• Research Institution: Kurume University
• Principal Investigator: Mizuochi Tatsuki 久留米大学, 医学部, 主任教授 (20368921)
• Co-Investigator(Kenkyū-buntansha): 西小森 隆太 久留米大学, 医学部, 教授 (70359800)
• Project Period (FY): 2021-04-01 – 2024-03-31
• Keywords: 自己免疫性肝疾患 / 小児

Outline of Final Research Achievements

We performed a comprehensive genetic analysis of 47 Japanese pediatric patients with autoimmune liver disease (AILD) including autoimmune hepatitis (AIH), primary sclerosing cholangitis (PSC), and AIH/PSC overlap syndrome. We identified a significantly higher frequency of the missense mutation of P242S in the SH2B3 gene in the AILD patients than the Japanese database.
As for biomarkers, ELISA analysis was performed for serum GDF-15 in three groups: AIH and liver disease control groups with normal ALT and GGT, and healthy group. Serum GDF-15 in the AIH group was significantly elevated than the liver disease control group and healthy group.

Free Research Field

小児消化器肝臓病

Academic Significance and Societal Importance of the Research Achievements

SH2B3遺伝子のミッセンス変異P242Sは、小児期に自己免疫性肝疾患を発症しやすい疾患関連遺伝子変異の可能性が示唆された。
血清GDF-15は、小児の自己免疫性肝炎の早期診断に、ALTやGGTより優れている可能性が示唆された。