ArticleScientific reports2016
Two Genetic Variations in the IRF8 region are associated with Behçet's disease in Han Chinese.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Ocular Microbiota and Intraocular Inflammation.Frontiers in immunology · 2020Pooled it
- TRIM21 regulation of IRF-mediated type I interferon signaling in systemic autoimmune diseases.Frontiers in immunology · 2025Review
- Review
- Review
- Article
- The Immunogenetics of Behcet's Disease.Advances in experimental medicine and biology · 2022Article
- The Roles of Monocytes and Macrophages in Behçet's Disease With Focus on M1 and M2 Polarization.Frontiers in immunology · 2022Review
- Genetic aspects of idiopathic paediatric uveitis and juvenile idiopathic arthritis associated uveitis in Chinese Han.The British journal of ophthalmology · 2020Article
- Ankylosing spondylitis is associated with aberrant DNA methylation of IFN regulatory factor 8 gene promoter region.Clinical rheumatology · 2019Article
- Association ofThe British journal of ophthalmology · 2018Article
- Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.The open rheumatology journal · 2018Review
- Review
- Ocular Behcet's disease is associated with aberrant methylation of interferon regulatory factor 8 (IRF8) in monocyte-derived dendritic cells.Oncotarget · 2017Article
- Enhancement of Th1/Th17 inflammation by TRIM21 in Behçet's disease.Scientific reports · 2017Article
- Hypermethylation of Interferon Regulatory Factor 8 (IRF8) Confers Risk to Vogt-Koyanagi-Harada Disease.Scientific reports · 2017Article
- Genetic analysis of innate immunity in Behcet's disease identifies an association with IL-37 and IL-18RAP.Scientific reports · 2016Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several modulatory factors in the TLR signaling pathway including IRF3, IRF7, IRF8, TRIM20, MYD88 and NF-κB1 have been associated with autoimmune disease. In this study, we investigated the association of 13 SNPs for these genes with Behçet's disease (BD) and Vogt-Koyanagi-Harada (VKH) syndrome using a polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) assay. Haplotype and linkage disequilibrium (LD) analysis were performed by Haploview4.2. IRF8 mRNA expression and cytokine production was tested by real-time PCR and ELISA. Two SNPs near IRF8 were associated with BD (for rs17445836 GG genotype, Pc = 9.56 × 10(-8), OR = 2.044; for rs11642873 AA genotype, Pc = 9.24 × 10(-7), OR = 1.776). No significant association was found for the 13 SNPs tested with VKH syndrome. Haplotype analysis of the two positive SNPs revealed that the AG haplotype was significantly increased in BD patients (Pc = 2.60 × 10(-8), OR = 1.646). Functional studies revealed an increased mRNA expression of IRF8 and IFN-γ production and a decreased production of IL-10 in rs17445836 carriers with the GG genotype. Increased expression of IRF8 as well as IFN-γ production and a decreased production of IL-10 were found in individuals carrying the rs11642873/AA genotype. In conclusion, this study indicates that IRF8 may contribute to the genetic susceptibility of BD by regulating IRF8 expression and cytokine production.
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