ArticleJournal of the Chinese Medical Association : JCMA2025
Two novel SNPs rs1736952 and rs17354984 are highly associated with uveitis in ankylosing spondylitis.
Article in Journal of the Chinese Medical Association : JCMA, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Exploring the Genetic Association and Genetic Architecture of Iridocyclitis and Extraocular Autoimmune Diseases.Translational vision science & technology · 2026Article
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10 authors.
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Abstract
backgroundNoninfectious anterior uveitis shares genetic factors, including HLA-B27, with ankylosing spondylitis (AS). The aim of this study was to identify significant single nucleotide polymorphisms (SNPs) associated with noninfectious anterior uveitis in AS patients, which may help predict help predict the risk of developing this condition and provide deeper insights into its genetic basis.
methodsA genome-wide association study (GWAS) was conducted using the genomic data of 468 AS patients, including 90 with noninfectious anterior uveitis and 378 without it, from the Taiwan Precision Medicine Initiative. This study identified relevant genes using SnpXplorer and developed a polygenic risk score (PRS) model to identify AS patients with an increased risk of noninfectious anterior uveitis. Biological pathways were analyzed via Enrichr-KG and various databases.
resultsGWAS revealed two novel SNPs, rs1736952 and rs17354984, with p values <5 × 10 -8 , and 74 SNPs with p values <1 × 10 -4 . The associated genes were involved mainly in antigen presentation, interferon signaling, immune regulation pathways, ciliary movement, and neurodegeneration. An optimal PRS model was constructed using 19 SNPs, achieving an area under the curve (AUC) of 0.907.
conclusionOur results revealed that two novel and significant SNP loci, rs1736952 and rs17354984, are strongly associated with noninfectious anterior uveitis in patients with AS. However, their roles in uveitis and other immune disorders warrant further investigation.
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