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福島県立医科大学学術成果リポジトリ = Fukushima Medical University Repository >
福島医学会 = The Fukushima Society of Medical Science >
Fukushima Journal of Medical Science >
Vol.58 (2012) >
このアイテムの引用には次の識別子を使用してください:
http://ir.fmu.ac.jp/dspace/handle/123456789/340
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| タイトル: | Association of the toll-like receptor 9 gene polymorphisms with behcet's disease in a Japanese population |
| その他のタイトル: | TLR9 gene polymorphisms in Behcet's disease |
| 著者: | Sakamoto, Natsumi
Sekine, Hideharu
Kobayashi, Hiroko
Sato, Yukio
Ohira, Hiromasa |
| 学内所属: | 消化器・リウマチ膠原病内科学講座
免疫学講座 |
| 誌名/書名: | Fukushima Journal of Medical Science |
| 巻: | 58 |
| 号: | 2 |
| 開始ページ: | 127 |
| 終了ページ: | 135 |
| 発行日: | 2012年 |
| 抄録: | Bacterial infection (i.e., Streptococcus sanguinis) has been suggested to be related to pathogenesis and/or symptom of Behcet's disease (BD). Toll-like receptor 9 (TLR9) plays an important role in both the innate and adaptive immune systems by recognizing a component of bacterial DNA (i.e., CpG-DNA). Previous studies have demonstrated that single nucleotide polymorphisms (SNPs) in TLR9 were associated with infectious and autoimmune/autoinflammatory diseases. In this study, we detected five SNPs with BD patients in a Japanese population. Allele frequency analysis of the three common SNPs (-1486: T/C (promoter region), 1174: A/G (intron 1), 2848: G/A (exon 2; Pro545Pro)) showed no statistically significant difference between the BD patients and the healthy controls. However, genotyping analysis revealed that the homozygous genotypes -1486CC and 1174GG were significantly more frequent in the BD patients compared to the healthy controls (P=0.048 and P=0.027, respectively). The homozygous diplotype distribution C-G-A/C-G-A was significantly more frequent in the BD patients compared to the healthy controls (P=0.041). For reporter gene assay, the plasmid construct carrying diplotype distribution C-G/C-G of the -1486T/C and 1174A/G SNPs showed significantly higher luciferase activity compared to the plasmid construct carrying diplotype distribution T-A/T-A (P=0.019). These results suggested an association of the homozygous genotypes and homozygous diplotype configuration of the TLR9 SNPs with susceptibility to BD in the Japanese population. |
| 出版者: | The Fukushima Society of Medical Science |
| 出版者（異表記）: | 福島医学会 |
| 本文の言語: | eng |
| このページのURI: | http://ir.fmu.ac.jp/dspace/handle/123456789/340 |
| 本文URL: | http://ir.fmu.ac.jp/dspace/bitstream/123456789/340/1/FksmJMedSci_58_p127.pdf |
| ISSN: | 0016-2590
2185-4610 |
| DOI: | 10.5387/fms.58.127 |
| PubMed番号: | 23237868 |
| 異版(出版者版等): | http://dx.doi.org/10.5387/fms.58.127 |
| 権利情報: | © 2012 The Fukushima Society of Medical Science |
| 出現コレクション: | Vol.58 (2012)
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