ArticleCommunications biology2021
Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis.
Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 3 of them syntheses that pooled it.
What it found
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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.
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Who cites it
41 citing papers in PubMed, 3 syntheses or guidelines pooled it, 61 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
- Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.Nature communications · 2025Pooled it
- Longitudinal lung function and gas transfer in individuals with idiopathic pulmonary fibrosis: a genome-wide association study.The Lancet. Respiratory medicine · 2023Pooled it
- Contribution of dominant and recessive model effects to the genetic architecture of Idiopathic Pulmonary Fibrosis.medRxiv : the preprint server for health sciences · 2026Article
- Assessment of mosaic loss of chromosome Y in pulmonary fibrosis reveals limited association with susceptibility or disease severity.BMJ open respiratory research · 2026Article
- Prospective study of fibrosis in the lung endpoints (PROFILE): characteristics of an incident cohort of patients with idiopathic pulmonary fibrosis.BMJ open respiratory research · 2026Observational
- Multi-omics approaches in idiopathic pulmonary fibrosis: from molecular mechanisms to therapeutic targets and precision medicine.Frontiers in pharmacology · 2026Review
- A tiered strategy to identify relevant genetic variants in familial pulmonary fibrosis: a proof of concept for the clinical practice.European journal of human genetics : EJHG · 2025Article
- Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis.ERJ open research · 2025Article
- Association between genetic prediction of 486 blood metabolites and the risk of idiopathic pulmonary fibrosis: A mendelian randomization study.Biomedical reports · 2025Article
- An Overview of the Role of Genetic factors in Idiopathic Pulmonary Fibrosis: Insights from Epidemiology to Prognosis.International journal of medical sciences · 2025Review
- Mendelian randomization study on the causal relationship between chronic hepatitis B/C virus infection and idiopathic pulmonary fibrosis.Journal of thoracic disease · 2024Article
- Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.Nature genetics · 2024Article
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- Genetics of chronic respiratory disease.Nature reviews. Genetics · 2024Review
- Phenome-wide identification of therapeutic genetic targets, leveraging knowledge graphs, graph neural networks, and UK Biobank data.Science advances · 2024Article
- Characterising the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases.medRxiv : the preprint server for health sciences · 2024Article
- Mendelian randomisation highlights type 1 diabetes as a causal determinant of idiopathic pulmonary fibrosis.Diabetology & metabolic syndrome · 2024Article
- Genome-wide SNP-sex interaction analysis of susceptibility to idiopathic pulmonary fibrosis.medRxiv : the preprint server for health sciences · 2024Article
- Emerging role and function of SPDL1 in human health and diseases.Open medicine (Warsaw, Poland) · 2024Review
Corrections and comments
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Authors and funding
27 authors at 6 institutions in 6 countries.
Funding
Abstract
Idiopathic pulmonary fibrosis (IPF) is a fatal disorder characterised by progressive, destructive lung scarring. Despite substantial progress, the genetic determinants of this disease remain incompletely defined. Using whole genome and whole exome sequencing data from 752 individuals with sporadic IPF and 119,055 UK Biobank controls, we performed a variant-level exome-wide association study (ExWAS) and gene-level collapsing analyses. Our variant-level analysis revealed a novel association between a rare missense variant in SPDL1 and IPF (NM_017785.5:g.169588475 G > A p.Arg20Gln; p = 2.4 × 10
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Registered trials
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.