| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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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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