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AMCoR:Asahikawa Medical University Collection and Research (旭川医科大学学術成果リポジトリ)は、本学で生産された電子的な知的生産物(学術雑誌論文の原稿・教材・学術資料など)を保存し、原則的に無償で発信するためのインターネット上の保管庫です。

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閲覧数:952
ID 20160930_K501
アイテムタイプ Article
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本文 K501 Fujibayashi Shugo_TD.pdf
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Last updated : Sep 30, 2016
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タイトル 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
著者
藤林, 周吾 (Fujibayashi, Shugo)
上位タイトル
Biochemistry and Biophysics Reports No.6  (2016. 6) ,p.76- 81
識別番号
DOI 10.1016/j.bbrep.2016.03.005
博士論文情報
学位授与番号 10107A501
学位授与年月日 2016-09-30
学位名 博士(医学)
学位授与機関 旭川医科大学
抄録 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.
キーワード
Autoimmune pancreatitis
High-throughput sequencing
Susceptibility gene
Polymorphism
言語
eng
資源タイプ application/pdf
ジャンル Thesis or Dissertation
著者版フラグ ETD
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