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This study aimed to explore the potential causal link between genetic predisposition to various connective tissue diseases (CTDs), namely systemic lupus erythematosus (SLE), Sjögren's syndrome (SS), polymyositis (PM), dermatomyositis (DM), systemic sclerosis (SSc), mixed connective tissue disease (MCTD), and rheumatoid arthritis (RA), and the incidence of pulmonary arterial hypertension (PAH) utilizing Mendelian randomization (MR). Employing a two-sample MR approach, genetic variants associated with CTDs served as instrumental variables to investigate the exposure-outcome relationship, with GWAS data sourced from the FinnGen Biobank. Comprehensive statistical analyses, including the inverse variance weighted (IVW) method, were conducted, alongside heterogeneity, pleiotropy, and sensitivity tests to ensure the robustness and validity of findings.
View Article and Find Full Text PDFSevere interstitial lung disease risk prediction in anti-melanoma differentiation-associated protein 5 positive dermatomyositis: the STRAD-Ro52 model.
Ann Med
December 2025
Department of Rheumatology and Immunology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Objective: Anti-melanoma differentiation-associated gene 5-positive dermatomyositis-associated interstitial lung disease (MDA5DM-ILD) often leads to acute respiratory failure and endangers lives. This study quantitatively analysed chest high-resolution computed tomography (HRCT) images to assess MDA5DM-ILD and establish a risk prediction model for severe ILD within six months.
Methods: We developed a 'Standardized Threshold Ratio Analysis & Distribution' (STRAD) to analyse lung HRCT images.
The role of nailfold video-capillaroscopy in the assessment of dermatomyositis.
Rheumatology (Oxford)
December 2024
Department of Rheumatology, Affiliated Hospital of Nantong University, 20 Xisi Road, Jiangsu Province, Nantong, 226001, China.
Objectives: The clinical manifestations of dermatomyositis (DM) are diverse, nailfold video-capillaroscopy (NVC) can reflect microangiopathy, a process believed to contribute significantly to the clinical manifestations of DM. We aimed to explore the distinctive alterations and implications of nailfold capillary for evaluating disease progression in individuals with DM.
Methods: We gathered clinical data from 76 DM patients who underwent NVC in the Affiliated Hospital of Nantong University between September 2017 and September 2022.
Low serum S100A6 levels are associated RP-ILD risk in anti-MDA5-positive dermatomyositis.
Clin Rheumatol
December 2024
Division of Rheumatology, Northern Jiangsu People's Hospital, Jiangsu, China.
Introduction: Anti-MDA5-positive dermatomyositis (anti-MDA5-DM) is a rare autoimmune disease that often leads to rapid-progressive interstitial lung disease (RP-ILD). The lack of effective prediction and treatment methods makes RP-ILD a major risk factor for death in patients with this condition. S100A6 is a member of the S100 Ca2 + - binding protein family, which plays important roles in inflammation, tumor, injury, and fibroblast reparation.
View Article and Find Full Text PDFMeta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies.
Arthritis Rheumatol
December 2024
Institute for Clinical and Translational Research, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.
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