2018 Fiscal Year Final Research Report
Candidate genes associated with type 1 autoimmune pancreatitis susceptibility
| Project/Area Number |
17K15912
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Gastroenterology
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
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| Research Collaborator |
SASAJIMA Junpei
GOTO Takuma
FUJIYA Mikihiro
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| Project Period (FY) |
2017-04-01 – 2019-03-31
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| Keywords | 自己免疫性膵炎 |
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| Outline of Final Research Achievements |
We sought to identify the genetic variants associated with pathogenesis of autoimmune pancreatitis (AIP). Twenty-seven type 1 AIP patients and 30 healthy donors were recruited, and custom-made panel covering 1,031 genes was utilized to explore the genetic variants. Polymorphisms of CACNA1S (c.4642C4T), rs41554316, rs2231119, rs1042131, rs2838171, P2RX3 (c.195delG), rs75639061, SMAD7 (c.624delC) and TOP1 (c.2007delG), were found as candidate variants in the patients. P2RX3 and TOP1 were significantly associated with AIP. Additionally, we identified 8 variants that were associated with the relapse of AIP, namely: rs1143146, rs1050716, HLA-C (c.759_763delCCCCCinsTCCCG), rs1050451, rs4154112, rs1049069, CACNA1C (c.5996delC) and CXCR3 (c.630_631delGC). Finally polymorphisms of rs1050716 and rs111493987 were identified as candidate genetic variants associated with extra-pancreatic lesions in patients with AIP. These variants might be used as markers of AIP susceptibility.
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| Free Research Field |
消化器内科学
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| Academic Significance and Societal Importance of the Research Achievements |
AIPは原因不明の慢性膵炎であり、高IgG血症やリウマチ因子などの自己抗体が陽性で、ステロイド治療への良好な反応が特徴とされる。疾患感受性遺伝子の同定は、診断ならびに予後予測マーカーとして、診断に難渋する例や再燃を来す例に対する解決策となる。
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