High-throughput sequencing による自己免疫性膵炎疾患感受性遺伝子の同定に関する研究

• Material Type: 博士論文
• Title: High-throughput sequencing による自己免疫性膵炎疾患感受性遺伝子の同定に関する研究
• Volume: 6
• Author/Editor: 藤林, 周吾
• Author Heading: 藤林, 周吾
• Publication Date: 2016-06; 6
• Publication Date (W3CDTF): 2016-06
• Alternative Title: A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility
• Periodical title: Biochemistry and Biophysics Reports
• Degree grantor/type: 旭川医科大学
• Date Granted: 2016-09-30
• Date Granted (W3CDTF): 2016-09-30
• Dissertation Number: 甲第501号
• Degree Type: 博士（医学）
• Conferring No. (Dissertation): 甲第501号
• Text Language Code: eng
• Subject Heading: Autoimmune pancreatitis; High-throughput sequencing; Susceptibility gene; Polymorphism
• Target Audience: 一般
• Note (General): type:application/pdf; 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.
• DOI: info:doi/10.1016/j.bbrep.2016.03.005; https://doi.org/info:doi/10.1016/j.bbrep.2016.03.005
• Persistent ID (NDL): info:ndljp/pid/10211585; https://dl.ndl.go.jp/pid/10211585
• Collection: 障害者向け資料
• Collection (Materials For Handicapped People:1): テキストデータ
• Collection (particular): 国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文; https://dl.ndl.go.jp/collections/A00014
• Acquisition Basis: 博士論文（自動収集）
• Date Accepted (W3CDTF): 2016-11-02T12:02:18+09:00
• Format (IMT): application/pdf
• Access Restrictions: 国立国会図書館内限定公開
• Service for the Digitized Contents Transmission Service: 図書館・個人送信対象外
• Availability of remote photoduplication service: 可
• Periodical Title (URI): http://amcor.asahikawa-med.ac.jp/modules/xoonips/detail.php?id=20160930_K501
• Data Provider (Database): 国立国会図書館 : 国立国会図書館デジタルコレクション; https://dl.ndl.go.jp

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