ArticleScientific reports2020
Influence of MUC5B gene on antisynthetase syndrome.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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The trial behind it
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Defining anti-synthetase syndrome: a systematic literature review.Clinical and experimental rheumatology · 2022Pooled it
- Genetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences.Medicina (Kaunas, Lithuania) · 2024Review
- Article
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- A Review of Antisynthetase Syndrome-Associated Interstitial Lung Disease.International journal of molecular sciences · 2024Review
- Unusual presentation of antisynthetase syndrome: a case series and review of the literature.Journal of medical case reports · 2023Review
- The MUC5B Promoter Polymorphism is Not Associated With Non-ILD Chronic Respiratory Diseases or Post-transplant Outcome.Transplant international : official journal of the European Society for Organ Transplantation · 2022Article
- Role of MUC1 rs4072037 polymorphism and serum KL-6 levels in patients with antisynthetase syndrome.Scientific reports · 2021Article
- Single Nucleotide Polymorphism in theLife (Basel, Switzerland) · 2021Article
- TheFrontiers in medicine · 2021Article
- Biomarkers in Progressive Fibrosing Interstitial Lung Disease: Optimizing Diagnosis, Prognosis, and Treatment Response.Frontiers in medicine · 2021Review
- Review
- A Pathophysiological Perspective on COVID-19's Lethal Complication: From Viremia to Hypersensitivity Pneumonitis-like Immune Dysregulation.Infection & chemotherapy · 2020Review
Corrections and comments
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Authors and funding
37 authors at 17 institutions in 3 countries.
Funding
Abstract
MUC5B rs35705950 (G/T) is strongly associated with idiopathic pulmonary fibrosis (IPF) and also contributes to the risk of interstitial lung disease (ILD) in rheumatoid arthritis (RA-ILD) and chronic hypersensitivity pneumonitis (CHP). Due to this, we evaluated the implication of MUC5B rs35705950 in antisynthetase syndrome (ASSD), a pathology characterised by a high ILD incidence. 160 patients with ASSD (142 with ILD associated with ASSD [ASSD-ILD+]), 232 with ILD unrelated to ASSD (comprising 161 IPF, 27 RA-ILD and 44 CHP) and 534 healthy controls were genotyped. MUC5B rs35705950 frequency did not significantly differ between ASSD-ILD+ patients and healthy controls nor when ASSD patients were stratified according to the presence/absence of anti Jo-1 antibodies or ILD. No significant differences in MUC5B rs35705950 were also observed in ASSD-ILD+ patients with a usual interstitial pneumonia (UIP) pattern when compared to those with a non-UIP pattern. However, a statistically significant decrease of MUC5B rs35705950 GT, TT and T frequencies in ASSD-ILD+ patients compared to patients with ILD unrelated to ASSD was observed. In summary, our study does not support a role of MUC5B rs35705950 in ASSD. It also indicates that there are genetic differences between ILD associated with and that unrelated to ASSD.
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Registered trials
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