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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease

http://hdl.handle.net/10091/00022514
9f1b0d71-e076-4cf3-8ce9-27cfb5516292
名前 / ファイル ライセンス アクション
16K10020_01.pdf 16K10020_01.pdf (928.5 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2021-02-15
タイトル
言語 en
タイトル A low-frequency IL4R locus variant in Japanese patients with intravenous immunoglobulin therapy-unresponsive Kawasaki disease
言語
言語 eng
キーワード
主題Scheme Other
主題 Kawasaki disease
キーワード
主題Scheme Other
主題 Interleukin-4 receptor
キーワード
主題Scheme Other
主題 IVIG-resistance
キーワード
主題Scheme Other
主題 Single nucleotide variant
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Amano, Yuji

× Amano, Yuji

WEKO 110251

en Amano, Yuji

Search repository
Akazawa, Yohei

× Akazawa, Yohei

WEKO 110252

en Akazawa, Yohei

Search repository
Yasuda, Jun

× Yasuda, Jun

WEKO 110253

en Yasuda, Jun

Search repository
Yoshino, Kazuhisa

× Yoshino, Kazuhisa

WEKO 110254

en Yoshino, Kazuhisa

Search repository
Kojima, Katsuhiko

× Kojima, Katsuhiko

WEKO 110255

en Kojima, Katsuhiko

Search repository
Kobayashi, Norimoto

× Kobayashi, Norimoto

WEKO 110256

en Kobayashi, Norimoto

Search repository
Matsuzaki, Satoshi

× Matsuzaki, Satoshi

WEKO 110257

en Matsuzaki, Satoshi

Search repository
Nagasaki, Masao

× Nagasaki, Masao

WEKO 110258

en Nagasaki, Masao

Search repository
Kawai, Yosuke

× Kawai, Yosuke

WEKO 110259

en Kawai, Yosuke

Search repository
Minegishi, Naoko

× Minegishi, Naoko

WEKO 110260

en Minegishi, Naoko

Search repository
Ishida, Noriko

× Ishida, Noriko

WEKO 110261

en Ishida, Noriko

Search repository
Motoki, Noriko

× Motoki, Noriko

WEKO 110262

en Motoki, Noriko

Search repository
Hachiya, Akira

× Hachiya, Akira

WEKO 110263

en Hachiya, Akira

Search repository
Nakazawa, Yozo

× Nakazawa, Yozo

WEKO 110264

en Nakazawa, Yozo

Search repository
Yamamoto, Masayuki

× Yamamoto, Masayuki

WEKO 110265

en Yamamoto, Masayuki

Search repository
Koike, Kenichi

× Koike, Kenichi

WEKO 110266

en Koike, Kenichi

Search repository
Takeshita, Toshikazu

× Takeshita, Toshikazu

WEKO 110267

en Takeshita, Toshikazu

Search repository
信州大学研究者総覧へのリンク
氏名 Amano, Yuji
URL https://soar-rd.shinshu-u.ac.jp/profile/ja.jUnFumkh.html
信州大学研究者総覧へのリンク
氏名 Kojima, Katsuhiko
URL https://soar-rd.shinshu-u.ac.jp/profile/ja.OCcFuakh.html
信州大学研究者総覧へのリンク
氏名 Kobayashi, Norimoto
URL https://soar-rd.shinshu-u.ac.jp/profile/ja.jmApHVkh.html
信州大学研究者総覧へのリンク
氏名 Motoki, Noriko
URL https://soar-rd.shinshu-u.ac.jp/profile/ja.ghnmbhym.html
信州大学研究者総覧へのリンク
氏名 Nakazawa, Yozo
URL https://soar-rd.shinshu-u.ac.jp/profile/ja.yCSFuNkh.html
信州大学研究者総覧へのリンク
氏名 Takeshita, Toshikazu
URL https://soar-rd.shinshu-u.ac.jp/profile/ja.uVLaOmSF.html
出版者
出版者 BMC
引用
内容記述タイプ Other
内容記述 PEDIATRIC RHEUMATOLOGY.17:34(2019)
書誌情報 PEDIATRIC RHEUMATOLOGY

巻 17, p. 34, 発行日 2019-07-03
抄録
内容記述タイプ Abstract
内容記述 Background: Kawasaki disease (KD) is a systemic vasculitis which may be associated with coronary artery aneurysms. A notable risk factor for the development of coronary artery aneurysms is resistance to intravenous immunoglobulin (IVIG) therapy, which comprises standard treatment for the acute phase of KD. The cause of IVIG resistance in KD is largely unknown; however, the contribution of genetic factors, especially variants in immune-related genes, has been suspected. Methods: To explore genetic variants related to IVIG-unresponsiveness, we designated KD patients who did not respond to both first and second courses of IVIG therapy as IVIG-unresponsive patients. Using genomic DNA from 30 IVIG-unresponsive KD patients, we performed pooled genome sequencing targeting 39 immune-related cytokine receptor genes. Results: The single nucleotide variant (SNV), rs563535954 (located in the IL4R locus), was concentrated in IVIG-unresponsive KD patients. Individual genotyping showed that the minor allele of rs563535954 was present in 4/33 patients with IVIG-unresponsive KD, compared with 20/1063 individuals in the Japanese genome variation database (odds ratio = 7.19, 95% confidence interval 2.43-21.47). Furthermore, the minor allele of rs563535954 was absent in 42 KD patients who responded to IVIG treatment (P = 0.0337), indicating that a low-frequency variant, rs563535954, is associated with IVIG-unresponsiveness in KD patients. Although rs563535954 is located in the 3'-untranslated region of IL4R, there was no alternation in IL4R expression associated with the mior allele of rs563535954. However, IVIG-unresponsive patients that exhibited the minor allele of rs563535954 tended to be classified into the low-risk group (based on previously reported risk scores) for prediction of IVIG-resistance. Therefore, IVIG-unresponsiveness associated with the minor allele of rs563535954 might differ from IVIG-unresponsiveness associated with previous risk factors used to evaluate IVIG-unresponsiveness in KD. Conclusion: These findings suggest that the SNV rs563535954 could serve as a predictive indicator of IVIG-unresponsiveness, thereby improving the sensitivity of risk scoring systems, and may aid in prevention of coronary artery lesions in KD patients.
資源タイプ(コンテンツの種類)
内容記述タイプ Other
内容記述 Article
ISSN
収録物識別子タイプ EISSN
収録物識別子 1546-0096
PubMed
関連識別子
識別子タイプ PMID
関連識別子 https://www.ncbi.nlm.nih.gov/pubmed/31269967
関連名称
関連名称 31269967
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1186/s12969-019-0337-2
関連名称
関連名称 10.1186/s12969-019-0337-2
権利
権利情報 © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
出版タイプ
出版タイプ VoR
出版タイプResource http://purl.org/coar/version/c_970fb48d4fbd8a85
WoS
表示名 Web of Science
URL http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000474218200001
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