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The Contribution of SAA1 Polymorphisms to Familial Mediterranean Fever Susceptibility in the Japanese Population
http://hdl.handle.net/10069/31673
http://hdl.handle.net/10069/316730e5be853-3f0e-4d24-8272-8c4bed3839f7
名前 / ファイル | ライセンス | アクション |
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PLoS8_55227.pdf (160.4 kB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2013-05-09 | |||||
タイトル | ||||||
タイトル | The Contribution of SAA1 Polymorphisms to Familial Mediterranean Fever Susceptibility in the Japanese Population | |||||
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 | |||||
著者 |
Migita, Kiyoshi
× Migita, Kiyoshi× Agematsu, Kazunaga× Masumoto, Junya× Ida, Hiroaki× Honda, Seiyo× Jiuchi, Yuka× Izumi, Yasumori× Maeda, Yumi× Uehara, Ritei× Nakamura, Yoshikazu× Koga, Tomohiro× Kawakami, Atsushi× Nakashima, Munetoshi× Fujieda, Yuichiro× Nonaka, Fumiaki× Eguchi, Katsumi× Furukawa, Hiroshi× Nakamura, Tadashi× Nakamura, Minoru× Yasunami, Michio |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Background/Aims: Familial Mediterranean Fever (FMF) has traditionally been considered to be an autosomal-recessive disease, however, it has been observed that substantial numbers of patients with FMF possess only 1 demonstrable MEFV mutation. The clinical profile of familial Mediterranean fever (FMF) may be influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors. Methodology/Principal Findings: In view of the inflammatory nature of FMF, we investigated whether serum amyloid A (SAA) and interleukin-1 beta (IL-1β) gene polymorphisms may affect the susceptibility of Japanese patients with FMF. The genotypes of the -13C/T SNP in the 5′-flanking region of the SAA1 gene and the two SNPs within exon 3 of SAA1 (2995C/T and 3010C/T polymorphisms) were determined in 83 Japanese patients with FMF and 200 healthy controls. The same samples were genotyped for IL-1β-511 (C/T) and IL-1 receptor antagonist (IL-1Ra) variable number of tandem repeat (VNTR) polymorphisms. There were no significant differences between FMF patients and healthy subjects in the genotypic distribution of IL-1β -511 (C/T), IL-1Ra VNTR and SAA2 polymorphisms. The frequencies of SAA1.1 allele were significantly lower (21.7% versus 34.0%), and inversely the frequencies of SAA1.3 allele were higher (48.8% versus 37.5%) in FMF patients compared with healthy subjects. The frequency of -13T alleles, associated with the SAA1.3 allele in the Japanese population, was significantly higher (56.0% versus 41.0%, p = 0.001) in FMF patients compared with healthy subjects. Conclusions/Significance: Our data indicate that SAA1 gene polymorphisms, consisting of -13T/C SNP in the 5′-flanking region and SNPs within exon 3 (2995C/T and 3010C/T polymorphisms) of SAA1 gene, are associated with susceptibility to FMF in the Japanese population. | |||||
書誌情報 |
PLoS ONE 巻 8, 号 2, p. e55227, 発行日 2013-02-20 |
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出版者 | ||||||
出版者 | Public Library of Science | |||||
EISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 19326203 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.1371/journal.pone.0055227 | |||||
権利 | ||||||
権利情報 | © 2013 Migita 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 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | PLoS ONE, 8(2), e55227; 2013 |