| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2018-10-31 |
| タイトル |
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タイトル |
Genetic Association of PTPN22 Polymorphisms with Autoimmune Hepatitis and Primary Biliary Cholangitis in Japan |
| 言語 |
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言語 |
eng |
| DOI |
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関連識別子 |
https://doi.org/10.1038/srep29770 |
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関連名称 |
10.1038/srep29770 |
| 資源タイプ |
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資源 |
http://purl.org/coar/resource_type/c_6501 |
|
タイプ |
journal article |
| 著者 |
Umemura, Takeji
Joshita, Satoru
Yamazaki, Tomoo
Komatsu, Michiharu
Katsuyama, Yoshihiko
Yoshizawa, Kaname
Tanaka, Eiji
Ota, Masao
|
| 信州大学研究者総覧へのリンク |
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氏名 |
Umemura, Takeji |
|
URL |
http://soar-rd.shinshu-u.ac.jp/profile/ja.ymSpgpkh.html |
| 出版者 |
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出版者 |
NATURE PUBLISHING GROUP |
| 引用 |
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内容記述 |
SCIENTIFIC REPORTS.6:29770(2016) |
| 書誌情報 |
SCIENTIFIC REPORTS
巻 6,
p. 29770,
発行日 2016-07-11
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| 抄録 |
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内容記述 |
Autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC) are liver-specific autoimmune conditions that are characterized by chronic hepatic damage and often lead to cirrhosis and hepatic failure. Specifically, the protein tyrosine phosphatase N22 (PTPN22) gene encodes the lymphoid protein tyrosine phosphatase, which acts as a negative regulator of T-cell receptor signaling. A missense single nucleotide polymorphism (SNP) (rs2476601) in PTPN22 has been linked to numerous autoimmune diseases in Caucasians. In the present series, nine SNPs in the PTPN22 gene were analyzed in 166 patients with AIH, 262 patients with PBC, and 322 healthy controls in the Japanese population using TaqMan assays. Although the functional rs3996649 and rs2476601 were non-polymorphic in all subject groups, the frequencies of the minor alleles at rs1217412, rs1217388, rs1217407, and rs2488458 were significantly decreased in AIH patients as compared with controls (all Pc < 0.05). There were no significant relationships with PTPN22 SNPs in PBC patients. Interestingly, the AAGTCCC haplotype was significantly associated with resistance to both AIH (odds ratio [OR] = 0.58, P = 0.0067) and PBC (OR = 0.58, P = 0.0048). SNPs in the PTPN22 gene may therefore play key roles in the genetic resistance to autoimmune liver disease in the Japanese. |
| 資源タイプ（コンテンツの種類） |
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| ISSN |
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収録物識別子タイプ |
PISSN |
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収録物識別子 |
2045-2322 |
| PubMed |
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識別子タイプ |
PMID |
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関連識別子 |
https://www.ncbi.nlm.nih.gov/pubmed/27406031 |
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関連名称 |
27406031 |
| 権利 |
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権利情報 |
This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| 出版タイプ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| WoS |
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|
URL |
http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000379669700001 |
srep29770.pdf (471.2 kB)
