Dataset Information

Spondyloarthritis and the Human Leukocyte Antigen (HLA)-B^*27 Connection.

ABSTRACT: Heritability of Spondyloarthritis (SpA) is highlighted by several familial studies and a high association with the presence of human leukocyte antigen (HLA)-B^*27. Though it has been over four decades since the association of HLA-B^*27 with SpA was first determined, the pathophysiological roles played by specific HLA-B^*27 allotypes are not fully understood. Popular hypotheses include the presentation of arthritogenic peptides, triggering of endoplasmic reticulum (ER) stress by misfolded HLA-B^*27, and the interaction between free heavy chains or heavy chain homodimers of HLA-B^*27 and immune receptors to drive IL-17 responses. Several non-HLA susceptibility loci have also been identified for SpA, including endoplasmic reticulum aminopeptidases (ERAP) and those related to the IL-23/IL-17 axes. In this review, we summarize clinical aspects of SpA including known characteristics of gut inflammation, enthesitis and new bone formation and the existing models for understanding the association of HLA-B^*27 with disease pathogenesis. We also examine newer insights into the biology of HLA class I (HLA-I) proteins and their implications for expanding our understanding of HLA-B^*27 contributions to SpA pathogenesis.

SUBMITTER: Kavadichanda CG

PROVIDER: S-EPMC7982681 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature

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Spondyloarthritis and the Human Leukocyte Antigen (HLA)-B*27 Connection.

Kavadichanda Chengappa G CG Geng Jie J Bulusu Sree Nethra SN Negi Vir Singh VS Raghavan Malini M

Frontiers in immunology 20210308

Heritability of Spondyloarthritis (SpA) is highlighted by several familial studies and a high association with the presence of human leukocyte antigen (HLA)-B*27. Though it has been over four decades since the association of HLA-B*27 with SpA was first determined, the pathophysiological roles played by specific HLA-B*27 allotypes are not fully understood. Popular hypotheses include the presentation of arthritogenic peptides, triggering of endoplasmic reticulum (E ...[more]

PMID: 33763060

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Project description:BackgroundAxial spondyloarthritis (axSpA) is frequently diagnosed late, particularly in human leukocyte antigen (HLA)-B27-negative patients, resulting in a missed opportunity for optimal treatment. This study aimed to develop an artificial intelligence (AI) tool, termed NegSpA-AI, using sacroiliac joint (SIJ) magnetic resonance imaging (MRI) and clinical SpA features to improve the diagnosis of axSpA in HLA-B27-negative patients.MethodsWe retrospectively included 454 HLA-B27-negative patients with rheumatologist-diagnosed axSpA or other diseases (non-axSpA) from the Third Affiliated Hospital of Southern Medical University and Nanhai Hospital between January 2010 and August 2021. They were divided into a training set (n=328) for 5-fold cross-validation, an internal test set (n=72), and an independent external test set (n=54). To construct a prospective test set, we further enrolled 87 patients between September 2021 and August 2023 from the Third Affiliated Hospital of Southern Medical University. MRI techniques employed included T1-weighted (T1W), T2-weighted (T2W), and fat-suppressed (FS) sequences. We developed NegSpA-AI using a deep learning (DL) network to differentiate between axSpA and non-axSpA at admission. Furthermore, we conducted a reader study involving 4 radiologists and 2 rheumatologists to evaluate and compare the performance of independent and AI-assisted clinicians.ResultsNegSpA-AI demonstrated superior performance compared to the independent junior rheumatologist (≤5 years of experience), achieving areas under the curve (AUCs) of 0.878 [95% confidence interval (CI): 0.786-0.971], 0.870 (95% CI: 0.771-0.970), and 0.815 (95% CI: 0.714-0.915) on the internal, external, and prospective test sets, respectively. The assistance of NegSpA-AI promoted discriminating accuracy, sensitivity, and specificity of independent junior radiologists by 7.4-11.5%, 1.0-13.3%, and 7.4-20.6% across the 3 test sets (all P<0.05). On the prospective test set, AI assistance also improved the diagnostic accuracy, sensitivity, and specificity of independent junior rheumatologists by 7.7%, 7.7%, and 6.9%, respectively (all P<0.01).ConclusionsThe proposed NegSpA-AI effectively improves radiologists' interpretations of SIJ MRI and rheumatologists' diagnoses of HLA-B27-negative axSpA.

Dataset Information

Spondyloarthritis and the Human Leukocyte Antigen (HLA)-B^*27 Connection.

Publications

Spondyloarthritis and the Human Leukocyte Antigen (HLA)-B<sup>*</sup>27 Connection.

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