ArticleInvestigative ophthalmology & visual science2020
Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci.
Article in Investigative ophthalmology & visual science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- A large meta-analysis identifies genes associated with anterior uveitis.Nature communications · 2023Pooled it
- Ankylosing spondylitis risk factors: a systematic literature review.Clinical rheumatology · 2021Pooled it
- Exploring the Involvement ofLife (Basel, Switzerland) · 2026Review
- HLA-B*51 Beyond Behcet's Disease: Topography of Symptoms, Associated Diagnoses, and Characterization of Chronic Inflammatory Arthritis Phenotypes.International journal of molecular sciences · 2026Article
- Exploring the Genetic Association and Genetic Architecture of Iridocyclitis and Extraocular Autoimmune Diseases.Translational vision science & technology · 2026Article
- The Immunopathogenesis of uveitis.Frontiers in medicine · 2026Review
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Global epidemiology of spondyloarthritis.Nature reviews. Rheumatology · 2025Review
- Recent advances and prospects of nanoparticle-based drug delivery for diabetic ocular complications.Theranostics · 2025Review
- Beyond the joints: mechanistic insights and multidisciplinary strategies for spondyloarthritis-associated uveitis.Frontiers in immunology · 2025Review
- Genome-wide association study on dairy goat milk production traits using three models.Frontiers in genetics · 2025Article
- Gut microbiome dysregulation in noninfectious uveitis.Frontiers in immunology · 2025Review
- Divergent B-cell and cytotoxic TNK cell activation signatures in HLA-B27-associated ankylosing spondylitis and acute anterior uveitis.Frontiers in immunology · 2025Article
- Low uveitis rates in patients with axial spondyloarthritis treated with bimekizumab: pooled results from phase 2b/3 trials.Annals of the rheumatic diseases · 2024Article
- Genetic overlap between inflammatory bowel disease and iridocyclitis: insights from a genome-wide association study in a European population.BMC genomic data · 2024Article
- HLA-B*27 and Ankylosing Spondylitis: 50 Years of Insights and Discoveries.Current rheumatology reports · 2023Review
- Revealing mechanism of Methazolamide for treatment of ankylosing spondylitis based on network pharmacology and GSEA.Scientific reports · 2023Article
- EULAR study group on 'MHC-I-opathy': identifying disease-overarching mechanisms across disciplines and borders.Annals of the rheumatic diseases · 2023Review
- Comprehensive profiling of extracellular vesicles in uveitis and scleritis enables biomarker discovery and mechanism exploration.Journal of translational medicine · 2023Article
- Transcriptome network analysis implicates CX3CR1-positive type 3 dendritic cells in non-infectious uveitis.eLife · 2023Article
Corrections and comments
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Authors and funding
31 authors at 20 institutions in 8 countries.
Funding
Abstract
Purpose: Acute anterior uveitis (AAU) is a common intraocular inflammatory disease. AAU occurs in 30% to 50% of patients with ankylosing spondylitis (AS), and both conditions are strongly associated with human leukocyte antigen (HLA)-B27, implying a shared etiology. This study aims to apply genomewide association study (GWAS) to characterize the genetic associations of AAU and their relationship to the genetics of AS. Methods: We undertook the GWAS analyses in 2752 patients with AS with AAU (cases) and 3836 patients with AS without AAU (controls). There were 7,436,415 single-nucleotide polymorphisms (SNPs) available after SNP microarray genotyping, imputation, and quality-control filtering. Results: We identified one locus associated with AAU at genomewide significance: rs9378248 (P = 2.69 × 10-8, odds ratio [OR] = 0.78), lying close to HLA-B. Suggestive association was observed at 11 additional loci, including previously reported AS loci ERAP1 (rs27529, P = 2.19 × 10-7, OR = 1.22) and NOS2 (rs2274894, P = 8.22 × 10-7, OR = 0.83). Multiple novel suggestive associations were also identified, including MERTK (rs10171979, P = 2.56 × 10-6, OR = 1.20), KIFAP3 (rs508063, P = 5.64 × 10-7, OR = 1.20), CLCN7 (rs67412457, P = 1.33 × 10-6, OR = 1.25), ACAA2 (rs9947182, P = 9.70 × 10-7, OR = 1.37), and 5 intergenic loci. The SNP-based heritability is approximately 0.5 for AS alone, and is much higher (approximately 0.7) for AS with AAU. Consistent with the high heritability, a genomewide polygenic risk score shows strong power in identifying individuals at high risk of either AS with AAU or AS alone. Conclusions: We report here the first GWAS for AAU and identify new susceptibility loci. Our findings confirm the strong overlap in etiopathogenesis of AAU with AS, and also provide new insights into the genetic basis of AAU.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.