ArticleBMJ open respiratory research2014
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
Article in BMJ open respiratory research, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00014859 (Epidemiology of Surfactant Protein-B Deficiency), which is not on this map. Cited by 46 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Epidemiology of Surfactant Protein-B Deficiency
Who cites it
46 citing papers in PubMed, 78 citations in OpenAlex.
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- Phenotype-Genotype Correlations in ABCA3 Patients-The RespiRare Cohort.Pediatric pulmonology · 2025Article
- A comparative analysis of clinical phenotypes and outcomes in childhood interstitial lung disease due to surfactant dysfunction disorders: focusing on mutations in SFTPC, ABCA3, and NKX2-1 genes.Italian journal of pediatrics · 2025Article
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- Innovations in Childhood Interstitial and Diffuse Lung Disease.Clinics in chest medicine · 2024Review
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- Idiopathic Pulmonary Fibrosis Is Associated with Common Genetic Variants and Limited Rare Variants.American journal of respiratory and critical care medicine · 2023Article
- Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.International journal of molecular sciences · 2023Article
- Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine.Frontiers in medicine · 2023Review
- Rare surfactant-related variants in familial and sporadic pulmonary fibrosis.Human mutation · 2022Article
- Case Report: Report of Two Cases of Interstitial Lung Disease Caused by Novel Compound Heterozygous Variants in theFrontiers in genetics · 2022Article
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- Structure-Based Understanding of ABCA3 Variants.International journal of molecular sciences · 2021Article
- Idiopathic pulmonary fibrosis: Disease mechanisms and drug development.Pharmacology & therapeutics · 2021Review
- Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.Diagnostics (Basel, Switzerland) · 2021Article
- Three Infants with Pathogenic Variants in the ABCA3 Gene: Presentation, Treatment, and Clinical Course.The Journal of pediatrics · 2021Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPrevious studies investigating a genetic basis for idiopathic pulmonary fibrosis (IPF) have focused on resequencing single genes in IPF kindreds or cohorts to determine the genetic contributions to IPF. None has investigated interactions among the candidate genes.
objectiveTo compare the frequencies and interactions of mutations in six IPF-associated genes in a cohort of 132 individuals with IPF with those of a disease-control cohort of 192 individuals with chronic obstructive pulmonary disease (COPD) and the population represented in the Exome Variant Server.
methodsWe resequenced the genes encoding surfactant proteins A2 (SFTPA2), and C (SFTPC), the ATP binding cassette member A3 (ABCA3), telomerase (TERT), thyroid transcription factor (NKX2-1) and mucin 5B (MUC5B) and compared the collapsed frequencies of rare (minor allele frequency <1%), computationally predicted deleterious variants in each cohort. We also genotyped a common MUC5B promoter variant that is over-represented in individuals with IPF.
resultsWe found 15 mutations in 14 individuals (11%) in the IPF cohort: (SFTPA2 (n=1), SFTPC (n=5), ABCA3 (n=4) and TERT (n=5)). No individual with IPF had two different mutations, but one individual with IPF was homozygous for p.E292V, the most common ABCA3 disease-causing variant. We did not detect an interaction between any of the mutations and the MUC5B promoter variant.
conclusionsRare mutations in SFTPA2, SFTPC and TERT are collectively over-represented in individuals with IPF. Genetic analysis and counselling should be considered as part of the IPF evaluation.
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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.