Identifying common genetic etiologies between iridocyclitis and related immune-mediated diseases
Zhao Liu, Wenqiao Zhang, Qiuyuan Wang, Xumei Du, Zhiqi Tao, Jianguo Huang, Yuqin Wang

TL;DR
This study finds genetic links between iridocyclitis and immune-mediated diseases, identifying new potential therapeutic targets.
Contribution
The study identifies shared genetic risk loci and proteins between iridocyclitis and immune-mediated diseases using integrated GWAS analysis.
Findings
Five independent iridocyclitis-related risk loci and 123 associated genes were identified.
14 multi-disease risk genes and 109 disease-related proteins were discovered.
FBXL18 and IL15RA were confirmed to be responsive to inflammatory stimuli through flow cytometry.
Abstract
Patients with iridocyclitis are at heightened risk for immune-mediated diseases. The genetic underpinnings of iridocyclitis are intricate, necessitating an integrated approach to unravel the genetic connections between iridocyclitis and these diseases. GWAS data were integrated from three databases using METAL. Independent risk loci were analyzed through conditional and joint genome-wide multi-trait analysis, multi-marker genomic annotation, and functional mapping of significant loci. This approach combined quantitative trait loci data and various methodologies to identify genes and proteins associated with risk. Target gene verification was conducted through cell experiments and flow cytometry. The study identified five independent iridocyclitis-related risk loci and 123 associated genes. Additionally, 14 multi-disease risk genes and 109 disease-related proteins were discovered. Flow…
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Taxonomy
TopicsOcular Diseases and Behçet’s Syndrome · NF-κB Signaling Pathways · interferon and immune responses
