دورية أكاديمية
أعرض في EDS

Genetic variations of Toll-like receptor 9 predispose to systemic lupus erythematosus in Japanese population.

التفاصيل البيبلوغرافية
العنوان: Genetic variations of Toll-like receptor 9 predispose to systemic lupus erythematosus in Japanese population.
المؤلفون: Tao K; Department of Immunology and Parasitology, Institute of Health Biosciences, The University of Tokushima Graduate School, 3-18-15 Kuramoto, Tokushima 770-8503, Japan., Fujii M, Tsukumo S, Maekawa Y, Kishihara K, Kimoto Y, Horiuchi T, Hisaeda H, Akira S, Kagami S, Yasutomo K
المصدر: Annals of the rheumatic diseases [Ann Rheum Dis] 2007 Jul; Vol. 66 (7), pp. 905-9. Date of Electronic Publication: 2007 Mar 07.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: BMJ Country of Publication: England NLM ID: 0372355 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0003-4967 (Print) Linking ISSN: 00034967 NLM ISO Abbreviation: Ann Rheum Dis Subsets: MEDLINE
أسماء مطبوعة: Publication: London : BMJ
Original Publication: London : H.K. Lewis
مواضيع طبية MeSH: Lupus Erythematosus, Systemic/*genetics , Toll-Like Receptor 9/*genetics, Animals ; Antibodies, Antinuclear/blood ; DNA/immunology ; Down-Regulation/genetics ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Japan/epidemiology ; Jurkat Cells ; Lupus Erythematosus, Systemic/epidemiology ; Mice ; Mice, Inbred C57BL ; Polymorphism, Single Nucleotide/genetics
مستخلص: Background: Systemic lupus erythematosus (SLE) is characterised by dysregulation of autoreactive lymphocytes and antigen-presenting cells. Signalling through Toll-like receptor 9 (TLR9), a mediator of innate immune responses, has a role in activation of dendritic cells and autoreactive B cells.
Objective: To investigate whether TLR9 polymorphisms are associated with an increased risk of SLE.
Methods: DNA samples were obtained from 220 Japanese patients with SLE (with >4 American College of Rheumatology criteria for SLE) and 203 controls. The genetic variations of TLR9 were detected by PCR, followed by DNA sequencing. The promoter and enhancer activities of TLR9 were measured by luciferase reporter gene assay. The titres of anti-dsDNA antibodies in sera from control or TLR9-deficient mice were analysed by ELISA.
Results: The G allele at position +1174 (located in intron 1 of TLR9) is closely associated with an increased risk of SLE (p = 0.029). Furthermore, patients with SLE tend to have C allele at position -1486 (p = 0.11). Both alleles down regulate TLR9 expression by reporter gene assay. TLR9-deficient mice under a C57BL/6 background possess higher titres of anti-dsDNA serum antibodies than control C57BL/6 mice.
Conclusions: These results indicate that the presence of the G allele at position +1174 of TLR9 predisposes humans to an increased risk of SLE. It is speculated that TLR9 normally prevents the development of human SLE.
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المشرفين على المادة: 0 (Antibodies, Antinuclear)
0 (Toll-Like Receptor 9)
9007-49-2 (DNA)
تواريخ الأحداث: Date Created: 20070309 Date Completed: 20071025 Latest Revision: 20220317
رمز التحديث: 20221213
مُعرف محوري في PubMed: PMC1955115
DOI: 10.1136/ard.2006.065961
PMID: 17344245
قاعدة البيانات: MEDLINE
الوصف
تدمد:0003-4967
DOI:10.1136/ard.2006.065961