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The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.\u003cbr/\u003eMethods\u003cbr/\u003eGenotypes of HLA-B and -DRB1 loci were determined for 258 mutually unrelated Japanese FMF patients, who satisfied modified Tel-Hashomer criteria, and 299 healthy controls. The effects of carrier status were evaluated for the risk of FMF by odds ratio (OR). The HLA effects were also assessed for clinical forms of FMF, subsets of FMF with certain MEFV genotypes and responsiveness to colchicine treatment.\u003cbr/\u003eResults\u003cbr/\u003eThe carriers of B*39:01 were increased in the patients (OR = 3.25, p = 0.0012), whereas those of DRB1*15:02 were decreased (OR = 0.45, p = 0.00050), satisfying Bonferroni\u2019s correction for multiple statistical tests (n = 28, p\u003c0.00179). 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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever

http://hdl.handle.net/10091/00020852
c7d90aa2-939a-4178-b816-1f960d326a5c
名前 / ファイル ライセンス アクション
25461275_08.pdf 25461275_08.pdf (185.1 kB)
Item type 学術雑誌論文 / Journal Article(1)
公開日 2018-09-12
タイトル
言語 en
タイトル Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ journal article
著者 Yasunami, M

× Yasunami, M

WEKO 106255

en Yasunami, M

Search repository
Nakamura, H

× Nakamura, H

WEKO 106256

en Nakamura, H

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Agematsu, K

× Agematsu, K

WEKO 106257

en Agematsu, K

Search repository
Nakamura, A

× Nakamura, A

WEKO 106258

en Nakamura, A

Search repository
Yazaki, M

× Yazaki, M

WEKO 106259

en Yazaki, M

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Kishida, D

× Kishida, D

WEKO 106260

en Kishida, D

Search repository
Yachie, A

× Yachie, A

WEKO 106261

en Yachie, A

Search repository
Toma, T

× Toma, T

WEKO 106262

en Toma, T

Search repository
Masumoto, J

× Masumoto, J

WEKO 106263

en Masumoto, J

Search repository
Ida, H

× Ida, H

WEKO 106264

en Ida, H

Search repository
Koga, T

× Koga, T

WEKO 106265

en Koga, T

Search repository
Kawakami, A

× Kawakami, A

WEKO 106266

en Kawakami, A

Search repository
Eguchi, K

× Eguchi, K

WEKO 106267

en Eguchi, K

Search repository
Furukawa, H

× Furukawa, H

WEKO 106268

en Furukawa, H

Search repository
Nakamura, T

× Nakamura, T

WEKO 106269

en Nakamura, T

Search repository
Nakamura, M

× Nakamura, M

WEKO 106270

en Nakamura, M

Search repository
Migita, K

× Migita, K

WEKO 106271

en Migita, K

Search repository
信州大学研究者総覧へのリンク
氏名 Yazaki, Masahide
URL http://soar-rd.shinshu-u.ac.jp/profile/ja.gpTauakh.html
出版者
出版者 PUBLIC LIBRARY SCIENCE
引用
内容記述タイプ Other
内容記述 PLOS ONE.10(5):e0125938(2015)
書誌情報 PLOS ONE

巻 10, 号 5, p. e0125938, 発行日 2015-05-14
抄録
内容記述タイプ Abstract
内容記述 Objectives<br/>The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.<br/>Methods<br/>Genotypes of HLA-B and -DRB1 loci were determined for 258 mutually unrelated Japanese FMF patients, who satisfied modified Tel-Hashomer criteria, and 299 healthy controls. The effects of carrier status were evaluated for the risk of FMF by odds ratio (OR). The HLA effects were also assessed for clinical forms of FMF, subsets of FMF with certain MEFV genotypes and responsiveness to colchicine treatment.<br/>Results<br/>The carriers of B*39:01 were increased in the patients (OR = 3.25, p = 0.0012), whereas those of DRB1*15:02 were decreased (OR = 0.45, p = 0.00050), satisfying Bonferroni’s correction for multiple statistical tests (n = 28, p<0.00179). The protective effect of DRB1*15:02 was completely disappeared in the co-existence of B*40:01. The HLA effects were generally augmented in the patients without a canonical MEFV variant allele M694I, in accordance with the notion that the lower penetrance of the mutations is owing to the larger contribution of modifier genes in the pathogenesis, with a few exceptions. Further, 42.9% of 14 colchicine-resistant patients and 13.5% of 156 colchicine-responders possessed B*35:01 allele, giving OR of 4.82 (p = 0.0041).<br/>Conclusions<br/>The differential effects of HLA class I and class II polymorphisms were identified for Japanese FMF even in those with high-penetrance MEFV mutations.
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 PISSN
収録物識別子 1932-6203
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/25974247
関連名称
関連名称 25974247
DOI
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1371/journal.pone.0125938
関連名称
関連名称 10.1371/journal.pone.0125938
権利
権利情報 © 2015 Yasunami et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
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=000354545600033
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