ArticleAmerican journal of respiratory and critical care medicine2016
Desmoplakin Variants Are Associated with Idiopathic Pulmonary Fibrosis.
Article in American journal of respiratory and critical care medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 61 papers, 4 of them syntheses that pooled it.
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Who cites it
61 citing papers in PubMed, 4 syntheses or guidelines pooled it, 88 citations in OpenAlex.
- Common and rare variant analyses reveal genetic factors underlying idiopathic pulmonary fibrosis and its shared aetiology with severe COVID-19.EBioMedicine · 2025Pooled 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
- Integrative genomics identifies new genes associated with severe COPD and emphysema.Respiratory research · 2018Pooled it
- DSP variants may be associated with longitudinal change in quantitative emphysema.Respiratory research · 2019Trial
- Volume EM reveals desmosome three-dimensional architecture in epithelial cells and tissue models.The Journal of cell biology · 2026Article
- Desmoplakin loss in alveolar epithelium drives Wnt/β-Catenin-mediated extracellular matrix remodeling and fibrotic signaling in vitro.Molecular biology reports · 2026Article
- Identifying expression and DNA methylation biomarkers for lung adenocarcinoma risk in East Asia.Journal of the National Cancer Institute · 2026Article
- Recent advances in pulmonary fibrosis: from lung surfactant to the immune connection.Respiratory research · 2026Review
- Association Between Single Nucleotide Polymorphisms and Disease Susceptibility, Survival, and Acute Exacerbation in Idiopathic Pulmonary Fibrosis.Respirology (Carlton, Vic.) · 2026Observational
- Genetic Determinants of Progressive Pulmonary Fibrosis: A Comprehensive Review.International journal of molecular sciences · 2025Review
- Progressive lung fibrosis: reprogramming a genetically vulnerable bronchoalveolar epithelium.The Journal of clinical investigation · 2025Review
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- Genomic Profiling for Predictive Treatment Strategies in Fibrotic Interstitial Lung Disease.Biomedicines · 2024Review
- The A2ml1-Knockout mouse as an animal model for non-syndromic otitis media.International journal of pediatric otorhinolaryngology · 2024Article
- Genomic analysis of severe COVID-19 considering or not asthma comorbidity: GWAS insights from the BQC19 cohort.BMC genomics · 2024Article
- Breathing new life into the study of COPD with genes identified from genome-wide association studies.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Circular RNAs and their roles in idiopathic pulmonary fibrosis.Respiratory research · 2024Review
- Genetic Underpinnings of Pulmonary Fibrosis: An Overview.Cardiovascular & hematological agents in medicinal chemistry · 2024Review
- Distinct COPD subtypes in former smokers revealed by gene network perturbation analysis.Respiratory research · 2023Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 7 institutions in 1 country.
Funding
Abstract
rationaleSequence variation, methylation differences, and transcriptional changes in desmoplakin (DSP) have been observed in patients with idiopathic pulmonary fibrosis (IPF).
objectivesTo identify novel variants in DSP associated with IPF and to characterize the relationship of these IPF sequence variants with DSP gene expression in human lung.
methodsA chromosome 6 locus (7,370,061-7,606,946) was sequenced in 230 subjects with IPF and 228 control subjects. Validation genotyping of disease-associated variants was conducted in 936 subjects with IPF and 936 control subjects. DSP gene expression was measured in lung tissue from 334 subjects with IPF and 201 control subjects. MEASUREMENTS AND MAIN
resultsWe identified 23 sequence variants in the chromosome 6 locus associated with IPF. Genotyping of selected variants in our validation cohort revealed that noncoding intron 1 variant rs2744371 (odds ratio = 0.77, 95% confidence interval [CI] = 0.66-0.91, P = 0.002) is protective for IPF, and a previously described IPF-associated intron 5 variant (rs2076295) is associated with increased risk of IPF (odds ratio = 1.36, 95% CI = 1.19-1.56, P < 0.001) after controlling for sex and age. DSP expression is 2.3-fold increased (95% CI = 1.91-2.71) in IPF lung tissue (P < 0.0001). Only the minor allele at rs2076295 is associated with decreased DSP expression (P = 0.001). Staining of fibrotic and normal human lung tissue localized DSP to airway epithelia.
conclusionsSequence variants in DSP are associated with IPF, and rs2076295 genotype is associated with differential expression of DSP in the lung. DSP expression is increased in IPF lung and concentrated in the airway epithelia, suggesting a potential role for DSP in the pathogenesis of IPF.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.