Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Objective: Polymorphisms in the genes encoding interleukin 4 (IL4), interleukin 13 (IL13), and their corresponding receptors have been associated with multiple immune-mediated diseases. Our aim was to validate these previous observations in patients with systemic sclerosis (SSc) and scrutinize the effect of the polymorphisms on gene expression in various populations of peripheral blood leukocytes.
Methods: We genotyped a cohort of 2488 patients with SSc and 2246 healthy controls from The Netherlands, Spain, United Kingdom, Italy, Germany, and France. Taqman assays were used to genotype single-nucleotide polymorphisms (SNP) in the following genes: (1) IL4 (-590C>T/rs2243250); (2) IL4 receptor alpha (IL4RA) (Q576R/rs1801275); (3) IL13 (R130Q/rs20541 and -1112C>T/rs1800925); and (4) IL13RA1 (43163G>A/rs6646259). The effect of these polymorphisms on expression of the corresponding genes was assessed using quantitative RT-PCR on RNA derived from peripheral blood B cells, T cells, plasmacytoid dendritic cells, monocytes, and myeloid dendritic cells. We investigated whether these polymorphisms influenced development of pulmonary complications over 15 years in patients with SSc.
Results: None of the investigated polymorphisms was associated with SSc or any SSc clinical subtype. We did not observe any effect on transcript levels in the cell subtypes or on development of pulmonary complications.
Conclusion: Our data showed that polymorphisms in IL4, IL13, and their receptors do not play a role in SSc and do not influence the expression of their corresponding transcript in peripheral blood cells.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3899/jrheum.110235 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Anaplastic lymphoma kinase-positive primary CNS anaplastic large cell lymphoma in a pediatric patient: illustrative case.
J Neurosurg Case Lessons
September 2025
Department of Neurosurgery, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Background: Anaplastic lymphoma kinase (ALK)-positive primary CNS anaplastic large cell lymphoma (ALCL) is an extremely rare pediatric malignancy. Its radiological appearance often mimics infectious or glial lesions, complicating diagnosis and delaying treatment.
Observations: The authors report the case of a 10-year-old immunocompetent female who presented with absence seizures and vomiting.
Clinicopathologic Features, Pathogenesis, and Treatment of Monoclonal Gammopathy-Associated Myopathies.
Neurology
October 2025
Department of Neurology, Mayo Clinic, Rochester, MN.
Monoclonal gammopathy-associated myopathies (MGAMs) are rare yet treatable myopathies that occur in association with monoclonal gammopathies. These myopathies include light chain (AL) amyloidosis myopathy, sporadic late-onset nemaline myopathy (SLONM), scleromyxedema with associated myopathy, and newly reported monoclonal gammopathy-associated glycogen storage myopathy (MGGSM), including the vacuolar myopathy with monoclonal gammopathy and stiffness. All these 4 distinct subtypes of MGAMs typically present in patients aged 40 or older, frequently with a subacute onset of rapidly progressive proximal and axial muscle weakness.
View Article and Find Full Text PDFClinical applications of mass spectrometry in multiple myeloma.
Blood Adv
September 2025
Massachusetts General Hospital Cancer Center, Boston, Massachusetts, United States.
Mass spectrometry (MS) is an emerging tool in multiple myeloma that detects and quantifies monoclonal proteins in the peripheral blood with sensitivity several orders of magnitude greater than conventional serum protein electrophoresis and immunofixation. Both intact light chain (top-down) and clonotypic peptide (bottom-up) MS approaches have demonstrated sensitivity comparable to-or even surpassing-BM-based assessments using next generation flow cytometry or sequencing. However, due to the delayed clearance of paraproteins, MS may be less informative for early response assessment, underscoring the need to define the optimal timing for evaluation.
View Article and Find Full Text PDFProtective Role of Apelin in a Mouse Model of Post-Intensive Care Syndrome.
Am J Respir Cell Mol Biol
September 2025
University of Toronto, Interdepartmental Division of Critical Care Medicine, Toronto, Ontario, Canada.
Post-Intensive Care Syndrome (PICS) is a serious condition involving physical weakness, depression, and cognitive impairment that develop during or after an intensive care unit (ICU) stay, often resulting in long-term declines in quality of life. Patients with acute respiratory distress syndrome (ARDS) and severe COVID-19 are at particularly high risk, yet the molecular mechanisms underlying PICS remain poorly understood. Here, we identify impaired Apelin-APJ signaling as a potential contributor to PICS pathogenesis via disruption of inter-organ homeostasis.
View Article and Find Full Text PDFPrognostic Significance of Peripheral Blood Monocyte Count Among a National Cohort of Veterans with Pulmonary Fibrosis.
Ann Am Thorac Soc
September 2025
UCSF, Medicine, San Francisco, California, United States.
Introduction: Elevated peripheral blood monocyte counts (PBMC) are associated with disease progression and mortality in patients with idiopathic pulmonary fibrosis (IPF). However, evidence for progression stems primarily from highly curated cohort studies or post-hoc analysis of clinical trials. We used real-world data to examine the association between PBMC and IPF mortality among a national cohort of Veterans with IPF.
View Article and Find Full Text PDF