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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’s correction for multiple statistical tests (n = 28, p\u003c0.00179). 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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\u0027s correction for multiple statistical tests (n = 28, p\u003c0.00179). 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. 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Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever
http://hdl.handle.net/10091/00020974
http://hdl.handle.net/10091/00020974e66386dc-a4ef-4bb1-b335-c456d56105ea
名前 / ファイル | ライセンス | アクション |
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journal.pone.0125938.PDF (185.1 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2018-10-31 | |||||
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 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1371/journal.pone.0125938 | |||||
関連名称 | 10.1371/journal.pone.0125938 | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
Yasunami, Michio
× Yasunami, Michio× Nakamura, Hitomi× Agematsu, Kazunaga× Nakamura, Akinori× Yazaki, Masahide× Kishida, Dai× Yachie, Akihiro× Toma, Tomoko× Masumoto, Junya× Ida, Hiroaki× Koga, Tomohiro× Kawakami, Atsushi× Eguchi, Katsumi× Furukawa, Hiroshi× Nakamura, Tadashi× Nakamura, Minoru× Migita, Kiyoshi |
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信州大学研究者総覧へのリンク | ||||||
氏名 | Kishida, Dai | |||||
URL | https://soar-rd.shinshu-u.ac.jp/profile/ja.uUSVPpym.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(2014) | |||||
書誌情報 |
PLOS ONE 巻 10, 号 5, p. e0125938, 発行日 2014-05-14 |
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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 | EISSN | |||||
収録物識別子 | 1932-6203 | |||||
PubMed | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://www.ncbi.nlm.nih.gov/pubmed/25974247 | |||||
関連名称 | 25974247 | |||||
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 |