| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-08-08 |
| タイトル |
|
|
タイトル |
Mediterranean fever gene variants may prevent the development of lupus nephritis in Japanese patients with systemic lupus erythematosus |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
systemic lupus erythematosus |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Mediterranean fever variant |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
lupus nephritis |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
adaptive immunity |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
innate immunity |
| 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 |
Endo, Yushiro
Koga, Tomohiro
Mohamed, Lamiaa
Tsuji, Yoshika
Umeda, Masataka
Hayashi, Hiroko
Kishino, Tatsuya
Kawakami, Atsushi
|
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Background: Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by loss of immune tolerance, leading to systemic inflammation and organ damage. The Mediterranean fever (MEFV) gene, primarily linked to familial Mediterranean fever (FMF), has been suggested to have a protective role against SLE. However, comprehensive whole-exon analyses of MEFV and research on MEFV or FMF in non-Mediterranean populations, where MEFV exon 10 mutations are relatively rare, are limited. Methods: We conducted a whole-exon analysis of the MEFV gene in 55 Japanese patients with SLE. Patients were classified based on the presence or absence of MEFV variants, and their clinical characteristics were compared. In addition, we generated MRL/lpr mice with the human MEFV E148Q variant using CRISPR technology to examine its impact on disease phenotypes. Disease activity and kidney pathology were assessed using the established clinical and histological scoring systems. Results: Among the 55 patients, those carrying MEFV variants exhibited a significantly lower prevalence of lupus nephritis than non-carriers (P = 0.007). The number of MEFV variants was inversely associated with the risk of lupus nephritis (P = 0.03). In MRL/lpr mice, the E148Q variant was associated with reduced anti-dsDNA antibody production, reduced formation of memory B cells, and milder kidney pathology, indicating a shift from adaptive immunity to innate immune responses. Conclusions: Our findings suggest that MEFV variants, particularly the E148Q variant, may play a protective role against lupus nephritis in Japanese patients with SLE by modulating immune responses. These results provide valuable insights into the genetic factors influencing SLE severity. |
|
言語 |
en |
| 書誌情報 |
en : Frontiers in Immunology
巻 16,
p. art. no. 1571208,
発行日 2025-07-07
|
| 出版者 |
|
|
出版者 |
Frontiers Media SA |
|
言語 |
en |
| ISSN |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
1664-3224 |
| DOI |
|
|
関連タイプ |
isIdenticalTo |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.3389/fimmu.2025.1571208 |
| 権利 |
|
|
権利情報 |
© 2025 Endo, Koga, Mohamed, Tsuji, Umeda, Hayashi, Kishino and Kawakami. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
|
言語 |
en |
| 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 |
Frontiers in Immunology, 16, art. no. 1571208; 2025 |
|
言語 |
en |
FI16_1571208.pdf (1.4 MB)
