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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.MethodsGenotypes 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.ResultsThe 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). The protective effect of DRB1*15:02 was completely disappeared in the co-existence of B*40:01. 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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).ConclusionsThe differential effects of HLA class I and class II polymorphisms were identified for Japanese FMF even in those with high-penetrance MEFV mutations.", "subitem_description_type": "Other"}]}, "item_20002_description_20": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"subitem_description": "Article", "subitem_description_type": "Other"}]}, "item_20002_description_22": {"attribute_name": "その他の資源識別子", "attribute_value_mlt": [{"subitem_description": "PLOS ONE.10(5):e0125938(2014)", "subitem_description_type": "Other"}]}, "item_20002_full_name_16": {"attribute_name": "公開者(その他言語)", "attribute_value_mlt": [{"nameIdentifiers": [{"nameIdentifier": "169781", "nameIdentifierScheme": "WEKO"}], "names": [{"name": "PUBLIC, LIBRARY SCIENCE"}]}]}, "item_20002_identifier_23": {"attribute_name": "資源識別子URI", "attribute_value_mlt": [{"subitem_identifier_type": "HDL", "subitem_identifier_uri": "http://hdl.handle.net/10091/00020974"}]}, "item_20002_relation_31": {"attribute_name": "PubMed番号", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://www.ncbi.nlm.nih.gov/pubmed/25974247", "subitem_relation_type_select": "PMID"}}]}, "item_20002_relation_32": {"attribute_name": "DOI", "attribute_value_mlt": [{"subitem_relation_type": "isIdenticalTo", "subitem_relation_type_id": {"subitem_relation_type_id_text": "https://doi.org/10.1371/journal.pone.0125938", "subitem_relation_type_select": "DOI"}}]}, "item_20002_rights_50": {"attribute_name": "権利", "attribute_value_mlt": [{"subitem_rights": "© 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"}, {"subitem_rights": "© 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"}]}, "item_20002_source_id_25": {"attribute_name": "ISSN", "attribute_value_mlt": [{"subitem_source_identifier": "1932-6203", "subitem_source_identifier_type": "ISSN"}]}, "item_20002_text_52": {"attribute_name": "機関ID", "attribute_value_mlt": [{"subitem_text_value": "17"}]}, "item_20002_text_53": {"attribute_name": "コンテンツID", "attribute_value_mlt": [{"subitem_text_value": "oai:soar-ir.repo.nii.ac.jp:00020216"}]}, "item_20002_text_54": {"attribute_name": "コンテンツ更新日時", "attribute_value_mlt": [{"subitem_text_value": "2020-08-03T06:51:28Z"}]}, "item_20002_version_type_51": {"attribute_name": "著者版フラグ", "attribute_value_mlt": [{"subitem_version_resource": "http://purl.org/coar/version/c_970fb48d4fbd8a85", "subitem_version_type": "VoR"}]}, "item_access_right": {"attribute_name": "アクセス権", "attribute_value_mlt": [{"subitem_access_right": "metadata only access", "subitem_access_right_uri": "http://purl.org/coar/access_right/c_14cb"}]}, "item_files": {"attribute_name": "ファイル情報", "attribute_type": "file", "attribute_value_mlt": [{"download_preview_message": "", "file_order": 0, "filename": "", "future_date_message": "", "is_thumbnail": false, "mimetype": "", "size": 0, "url": {"url": "https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download\u0026item_id=20216\u0026item_no=1\u0026attribute_id=65\u0026file_no=1"}, "version_id": ""}]}, "item_language": {"attribute_name": "言語", "attribute_value_mlt": [{"subitem_language": "eng"}]}, "item_resource_type": {"attribute_name": "資源タイプ", "attribute_value_mlt": [{"resourcetype": "journal article", "resourceuri": "http://purl.org/coar/resource_type/c_6501"}]}, "item_title": "Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever", "item_titles": {"attribute_name": "タイトル", "attribute_value_mlt": [{"subitem_title": "Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever"}]}, "item_type_id": "20002", "owner": "25", "path": ["2668"], "permalink_uri": "https://shinshu.repo.nii.ac.jp/records/43737", "pubdate": {"attribute_name": "公開日", "attribute_value": "2020-09-04"}, "publish_date": "2020-09-04", "publish_status": "0", "recid": "43737", "relation": {}, "relation_version_is_last": true, "title": ["Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever"], "weko_shared_id": -1}
Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever
https://shinshu.repo.nii.ac.jp/records/43737
https://shinshu.repo.nii.ac.jp/records/437378c62b455-3983-44cd-8809-df8c19a9eeca
名前 / ファイル | ライセンス | アクション |
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https://soar-ir.repo.nii.ac.jp/?action=repository_action_common_download&item_id=20216&item_no=1&attribute_id=65&file_no=1
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Item type | Journal Article(1) | |||||
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公開日 | 2020-09-04 | |||||
タイトル | ||||||
タイトル | Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever | |||||
作成者(その他言語) |
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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公開者(その他言語) | ||||||
姓名 | PUBLIC, LIBRARY SCIENCE | |||||
書誌情報 |
PLOS ONE 巻 10, 号 5, p. e0125938, 発行日 2014-05-14 |
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言語 | ||||||
言語 | eng | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | journal article | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
内容記述 | ||||||
内容記述タイプ | Other | |||||
内容記述 | ObjectivesThe 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.MethodsGenotypes 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.ResultsThe 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).ConclusionsThe differential effects of HLA class I and class II polymorphisms were identified for Japanese FMF even in those with high-penetrance MEFV mutations. | |||||
日付 | ||||||
日付 | 2018-10-31 | |||||
日付タイプ | Created | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
その他の資源識別子 | ||||||
内容記述タイプ | Other | |||||
内容記述 | PLOS ONE.10(5):e0125938(2014) | |||||
資源識別子URI | ||||||
識別子 | http://hdl.handle.net/10091/00020974 | |||||
識別子タイプ | HDL | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1932-6203 | |||||
PubMed番号 | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | PMID | |||||
関連識別子 | https://www.ncbi.nlm.nih.gov/pubmed/25974247 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/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 | |||||
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 | |||||
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 |