AI Article Synopsis
- The study investigates the link between folate pathway gene polymorphisms and idiopathic pulmonary fibrosis, highlighting it as the first research of its kind in this area.
- Researchers analyzed 9 genetic variations in the folate pathway among 32 patients with idiopathic pulmonary fibrosis and 81 control participants using PCR techniques.
- Although no significant associations were found for most polymorphisms, a specific haplotype linked to the transcobalamin II gene showed a significant correlation, suggesting a potential role of folate in the disease that warrants further investigation.
Article Abstract
Objectives: This study aims to determine the possible association between folate pathway gene polymorphisms and idiopathic pulmonary fibrosis. This represents the first study carried out on folate pathway gene polymorphisms as possible risk factors in this kind of pathology. The premise is that several polymorphisms mapping on genes responsible for folate uptake are associated with the risk of numerous diseases occurring between pregnancy and old age, and that too little is currently known about idiopathic pulmonary fibrosis.
Design And Methods: We genotyped 9 single nucleotide polymorphisms and 1 polymorphic insertion in 7 essential genes belonging to the folate pathway in 32 Italian idiopathic pulmonary fibrosis patients and 81 control subjects. This was done by PCR and restriction analysis.
Results: Allelic and genotypic association tests indicated that for all the analysed polymorphisms there were no significant differences between patients and controls. Nevertheless, the haplotype association analysis revealed a significant association between idiopathic pulmonary fibrosis and transcobalamin II gene polymorphisms: specifically the haplotype 776G (rs1801198)-c.1026-394G (rs7286680)-444C (rs10418) (OR=2.84; 95% C.I. 1.36-5.93, P value=0.004).
Conclusions: This small-scale preliminary study would suggest the importance of further research focusing on the role of folate in the onset of idiopathic pulmonary fibrosis.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.clinbiochem.2012.10.009 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Background: Autoimmune pancreatitis (AIP) is a form of chronic pancreatitis that presents clinically with obstructive icterus, histologically with infiltration of pancreatic parenchyma by inflammatory cells leading to chronic inflammation with fibrosis, and therapeutically with good response to corticosteroid therapy. Clinically, it may resemble malignant disease, making diagnosis difficult and requiring a multidisciplinary team (gastroenterologist, endoscopist, radiologist, surgeon, pathologist). Two types of AIP are distinguished.
View Article and Find Full Text PDFHypoxia-inducible factor 2 regulates alveolar regeneration after repetitive injury in three-dimensional cellular and in vivo models.
Sci Transl Med
January 2025
Division of Allergy, Pulmonary, and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Idiopathic pulmonary fibrosis (IPF) is a progressive interstitial lung disease in which repetitive epithelial injury and incomplete alveolar repair result in accumulation of profibrotic intermediate/transitional "aberrant" epithelial cell states. The mechanisms leading to the emergence and persistence of aberrant epithelial populations in the distal lung remain incompletely understood. By interrogating single-cell RNA sequencing (scRNA-seq) data from patients with IPF and a mouse model of repeated lung epithelial injury, we identified persistent activation of hypoxia-inducible factor (HIF) signaling in these aberrant epithelial cells.
View Article and Find Full Text PDFInvestigating the Potential of Ufasomes Laden with Nintedanib as an Optimized Targeted Lung Nanoparadigm for Accentuated Tackling of Idiopathic Pulmonary Fibrosis.
Pharmaceuticals (Basel)
November 2024
Department of Pharmaceutics and Industrial Pharmacy, Faculty of Pharmacy, Beni-Suef University, Beni-Suef 62514, Egypt.
: Idiopathic pulmonary fibrosis (IPF) is a prevalent interstitial lung disease that typically progresses gradually, leading to respiratory failure and ultimately death. IPF can be treated with the tyrosine kinase inhibitor, nintedanib (NTD), owing to its anti-fibrotic properties, which ameliorate the impairment of lung function. This study aimed to formulate, optimize, and assess NTD-loaded ufasomes (NTD-UFSs) as a nanosystem for its pulmonary targeting to snowball the bioavailability and therapeutic efficacy of the drug.
View Article and Find Full Text PDFLymphocyte Involvement in the Pathology of Pulmonary Arterial Hypertension.
Int J Mol Sci
December 2024
Department of Experimental Immunology, Medical University of Lublin, Chodźki 4a Street, 20-093 Lublin, Poland.
Pulmonary arterial hypertension (PAH) is a disease characterized by increased pulmonary vascular resistance and right heart failure, with emerging evidence suggesting a key role for immune dysregulation in its pathogenesis. This study aimed to assess the involvement of lymphocytes, particularly regulatory T cells (Tregs), and the expression of immune checkpoint molecules PD-1 and PD-L1 on peripheral blood subpopulations in patients diagnosed with PAH. The study involved 25 patients; peripheral blood mononuclear cells were isolated and subsequently analyzed using flow cytometry to quantify the Treg cell percentage and evaluate PD-1 and PD-L1 expression across the T and B cells.
View Article and Find Full Text PDFGenetic Risk Factors in Idiopathic and Non-Idiopathic Interstitial Lung Disease: Similarities and Differences.
Medicina (Kaunas)
November 2024
Respiratory Disease Unit, University Hospital of Modena, 41124 Modena, Italy.
Recent advances in genetics and epigenetics have provided critical insights into the pathogenesis of both idiopathic and non-idiopathic interstitial lung diseases (ILDs). Mutations in telomere-related genes and surfactant proteins have been linked to familial pulmonary fibrosis, while variants in MUC5B and TOLLIP increase the risk of ILD, including idiopathic pulmonary fibrosis and rheumatoid arthritis-associated ILD. Epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs such as miR-21 and miR-29, regulate fibrotic pathways, influencing disease onset and progression.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!