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Introduction/objectives: Psoriatic arthritis (PsA) is a chronic inflammatory rheumatism belonging to the spondyloarthritis family. It is a multifactorial disease whose genetic determinism is still poorly understood. It is favored by environmental factors in genetically predisposed individuals.

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HLA-B*27:264 differs from HLA-B*27:05:02:01 in codon 49 in exon 2.

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Acute anterior uveitis (AAU) is a common extra-articular manifestation of ankylosing spondylitis (AS), particularly in patients positive for the human leucocyte antigen (HLA)-B27 genetic marker. To explore the underlying mechanisms of HLA-B27 AS-associated AAU, we employed single-cell RNA sequencing to profile the transcriptomes of peripheral blood mononuclear cells in three HLA-B27 AS-associated AAU patients and three healthy controls (HCs). We identified 11 distinct immune cell clusters, with a particular focus on monocytes, revealing six subsets, including three previously unidentified subsets, namely, GTPase immune-associated proteins, Th17-related, and lncRNA monocytes, with unique gene expression patterns.

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Earlier research has demonstrated a genetic basis for the susceptibility to ankylosing spondylitis (AS) and the severity of AS. By employing a genome-wide association study, recent work has established a correlation between the susceptibility to AS and the and genes in a Western study population-though alternative studies have not corroborated these findings. This study aims to examine the effects of , , and polymorphisms on the susceptibility and severity of AS among the predominantly Chinese Han population.

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Article Synopsis
  • Axial spondyloarthritis (axSpA) is often diagnosed late in HLA-B27-negative patients, leading to missed treatment opportunities, prompting the development of an AI tool called NegSpA-AI to improve diagnosis using MRI and clinical features.
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