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Objective: We evaluated whether a single-nucleotide polymorphism (SNP) of the TRAF6 gene previously associated with systemic lupus erythematosus and rheumatoid arthritis may be a common risk factor for systemic sclerosis (SSc) and giant cell arteritis (GCA).
Methods: A total of 1185 patients with SSc, 479 patients with biopsy-proven GCA, and 1442 unrelated healthy controls of white Spanish origin were genotyped for the rs540386 variant using a specifically designed TaqMan(©) allele discrimination assay.
Results: No significant associations of this SNP with global SSc or GCA were found. This was also the case when the potential associations of the TRAF6 polymorphism with the main clinical phenotypes of the 2 diseases (e.g., limited cutaneous and diffuse cutaneous SSc, or presence of polymyalgia rheumatica and visual ischemic manifestations in GCA) were assessed.
Conclusion: Our data do not support a role of the rs540386 TRAF6 variant as a key component of the genetic network underlying SSc and GCA.
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http://dx.doi.org/10.3899/jrheum.120038 | DOI Listing |
Women Health
September 2025
Nezahat Keleşoğlu Faculty of Health Sciences, Department of Physiotherapy and Rehabilitation, Necmettin Erbakan University, Konya, Turkey.
This study compared the pelvic floor dysfunction (PFD) symptoms, knowledge level and quality of life inwomen with systemic sclerosis (SSc) and healthy. The study included 30 SSc and 30 healthy women. The presence and severity of PFD symptoms were evaluated using the Pelvic Floor Distress Inventory-20 (PFDI-20) (Subscales: Pelvic Organ Prolapse Distress Inventory-6 (POPDI-6), Colorectal-Anal Distress Inventory-8 (CRADI-8), and Urinary Distress Inventory-6 (UDI-6)).
View Article and Find Full Text PDFExp Neurobiol
August 2025
Department of Anatomy, Jeju National University College of Medicine, Jeju 63243, Korea.
Experimental autoimmune encephalomyelitis (EAE) is an animal model of multiple sclerosis (MS). The latter is a human organ-specific autoimmune disease of the central nervous system (CNS). EAE is characterized by systemic inflammation associated with increased blood levels of proinflammatory mediators that potentially trigger inflammation of both reproductive organs and the CNS.
View Article and Find Full Text PDFClin Exp Rheumatol
September 2025
Department of Rheumatology and Immunology, Sichuan Tianfu New Area People's Hospital, Chengdu, Sichuan, China.
Clin Exp Rheumatol
September 2025
Department of Rheumatology and Clinical Immunology, University of Lübeck, Germany.
Rheumatology (Oxford)
September 2025
Department of Rheumatology & Clinical Immunology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Objectives: Many patients with systemic sclerosis (SSc) experience impaired hand function, yet the precise nature and impact of this impairment remains unclear. In this study, we explored the determinants of hand function impairment in SSc from a patient perspective and its impact on daily life. Additionally, we identified unmet care needs related to hand function impairment.
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