ArticleOrphanet journal of rare diseases2021
Potential clinical utility of MUC5B und TOLLIP single nucleotide polymorphisms (SNPs) in the management of patients with IPF.
Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 5 of them syntheses that pooled it.
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Who cites it
35 citing papers in PubMed, 5 syntheses or guidelines pooled it, 44 citations in OpenAlex.
- Trends and hotspots in pulmonary fibrosis biomarker research: a bibliometric analysis.Frontiers in medicine · 2025Pooled it
- Body mass index and weight loss as risk factors for poor outcomes in patients with idiopathic pulmonary fibrosis: a systematic review and meta-analysis.Annals of medicine · 2024Pooled it
- Associations between genetic variants of Toll-interacting proteins and interstitial lung diseases: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2024Pooled it
- Common single nucleotide polymorphisms associated with idiopathic pulmonary fibrosis: a systematic review.European respiratory review : an official journal of the European Respiratory Society · 2024Pooled it
- The minor T allele of the MUC5B promoter rs35705950 associated with susceptibility to idiopathic pulmonary fibrosis: a meta-analysis.Scientific reports · 2021Pooled it
- The Genetic Landscape of Fibrotic Interstitial Lung Diseases: Clinical Implications and Diagnostic Challenges in Familial Pulmonary Fibrosis.Journal of clinical medicine · 2026Review
- Toll interacting protein (TOLLIP) serum concentration in patients with systemic sclerosis (SSc), with and without interstitial lung disease (ILD).BMJ open respiratory research · 2026Article
- Association Between Single Nucleotide Polymorphisms and Disease Susceptibility, Survival, and Acute Exacerbation in Idiopathic Pulmonary Fibrosis.Respirology (Carlton, Vic.) · 2026Observational
- Article
- Idiopathic Pulmonary Fibrosis: A Comprehensive Review of Risk Factors, Genetics, Diagnosis, and Therapeutic Approaches.Biomedicines · 2026Review
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Article
- Association of theFrontiers in genetics · 2025Article
- Navigating interstitial lung disease associated with rheumatoid arthritis (RA-ILD): from genetics to clinical landscape.Frontiers in medicine · 2025Review
- Structural and immunological impacts of TOLLIP nsSNPs: A computational biology approach to drug discovery and immune system modulation.PloS one · 2025Article
- Toll interacting protein gene polymorphisms in patients with systemic sclerosis: association with interstitial lung disease, outcome, and survival.Frontiers in medicine · 2025Article
- Genomic Profiling for Predictive Treatment Strategies in Fibrotic Interstitial Lung Disease.Biomedicines · 2024Review
- Review
- Review
- Development of a Novel Biomarker for the Progression of Idiopathic Pulmonary Fibrosis.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic variants of TOLLIP and MUC5B, both on chromosome 11, have been reported to be associated with the development and/or prognosis of idiopathic pulmonary fibrosis (IPF). This retrospective study was conducted to investigate the association of MUC5B and TOLLIP SNPs with disease outcome in IPF. 62 IPF patients and 50 healthy controls (HC) from our Institution were genotyped for SNPs within MUC5B (rs35705950) and TOLLIP (rs3750920 and rs5743890). Correlation of SNPs genotypes with survival, acute exacerbation (AE) or disease progression (defined as a decline of ≥ 5% in FVC and or ≥ 10% in DLco in one year) was investigated.
resultsThe MUC5B rs35705950 minor allele (T) was more frequent in IPF subjects than in HC (35% vs 9% p < 0.001). TOLLIP SNPs alleles and genotype distribution did not differ between IPF and HC and did not vary according to gender, age, BMI and lung functional impairment at baseline. The minor allele (C) in TOLLIP rs5743890 was associated with worse survival and with disease progression in all performed analyses. The MUC5B rs35705950 or the TOLLIP rs3750920 minor allele, were not associated with disease progression or AE.
conclusionWe confirm that the minor allele of MUC5B rs35705950 is associated with IPF. The minor allele of TOLLIP rs5743890 appears to be a predictor of worse survival and more rapid disease progression, therefore being of potential utility to stratify IPF patients at baseline.
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