A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility |
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Authors: | Shugo Fujibayashi Junpei Sasajima Takuma Goto Hiroki Tanaka Hidemasa Kawabata Tsuneshi Fujii Kazumasa Nakamura Atsushi Chiba Nobuyuki Yanagawa Kentaro Moriichi Mikihiro Fujiya Yutaka Kohgo |
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Affiliation: | 1. Division of Gastroenterology and Hematology/Oncology, Department of Medicine, Asahikawa Medical University, 2-1-1-1 Midorigaoka-Higashi, Asahikawa 078-8510, Hokkaido, Japan;2. Department of Gastroenterology, Japanese Red Cross Asahikawa Hospital, 1-1-1-1 Akebono, Asahikawa 070-8530, Hokkaido, Japan;3. Department of Gastroenterology, Asahikawa City Hospital, 1-1-65 Kinseicho, Asahikawa 070-8610, Hokkaido, Japan;4. Department of Gastroenterology, Hokkaido Prefectural Welfare Federation of Agricultural Cooperative Asahikawa Kousei General Hospital, 111 1Jodori 24choume, Asahikawa 078-8211, Hokkaido, Japan |
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Abstract: | The pathogenesis of autoimmune pancreatitis is unknown. In the present study we used high-throughput sequencing with next generation sequencing to identify the candidate genes associated with AIP. A total of 27 type 1 AIP patients and 30 healthy blood donors were recruited, and DNA samples were isolated from their mononuclear cells. A high-throughput sequencer with an original custom panel of 1031 genes was used to detect the genetic variants in each sample. Polymorphisms of CACNA1S (c.4642C>T), rs41554316, rs2231119, rs1042131, rs2838171, P2RX3 (c.195delG), rs75639061, SMAD7 (c.624delC) and TOP1 (c.2007delG), were identified as candidate genetic variants in patients with type 1 AIP. P2RX3 and TOP1 were significantly associated with AIP, even after adjusting bay means of Bonferroni's correction. In addition, we also identified eight candidate genetic variants that were associated with the relapse of type 1 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 type 1 AIP. These candidates might be used as markers of AIP susceptibility and could contribute to the pathogenesis of type 1 AIP. |
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Keywords: | Autoimmune pancreatitis High-throughput sequencing Susceptibility gene Polymorphism |
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