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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
https://asahikawa-med.repo.nii.ac.jp/records/5533
https://asahikawa-med.repo.nii.ac.jp/records/5533648f4fcb-8877-4043-905a-ecbe57346168
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
6550.pdf (333.0 kB)
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| Item type | 学位論文 / Thesis or Dissertation_02(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2016-09-30 | |||||
| タイトル | ||||||
| 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 | |||||
| 言語 | ja | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Autoimmune pancreatitis | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | High-throughput sequencing | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Susceptibility gene | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Polymorphism | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| タイトル ローマ字 | ||||||
| その他のタイトル | A high-throughput sequence analysis of Japanese patients revealed 11 candidate genes associated with type 1 autoimmune pancreatitis susceptibility | |||||
| 著者 |
藤林, 周吾
× 藤林, 周吾 |
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| 著者 ローマ字 | ||||||
| 値 | Fujibayashi, Shugo | |||||
| 書誌情報 |
Biochemistry and Biophysics Reports 号 6, p. 76-81, 発行日 2016-06-01 |
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| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1016/j.bbrep.2016.03.005 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲501 | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2016-09-30 | |||||
| 学位名 | ||||||
| 学位名 | 博士（医学） | |||||
| 学位授与機関 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 10107 | |||||
| 学位授与機関名 | 旭川医科大学 | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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. | |||||
| 資源タイプ | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| フォーマット | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | application/pdf | |||||
