ArticleBMC genetics2016
Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia.
Article in BMC genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers, 3 of them syntheses that pooled it.
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Who cites it
66 citing papers in PubMed, 3 syntheses or guidelines pooled it, 100 citations in OpenAlex.
- 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
- Mendelian randomization reveals no correlations between herpesvirus infection and idiopathic pulmonary fibrosis.PloS one · 2023Pooled it
- Pooled it
- Immune adverse events (irAEs) with adjuvant ipilimumab in melanoma, use of immunosuppressants and association with outcome: ECOG-ACRIN E1609 study analysis.Journal for immunotherapy of cancer · 2021Trial
- Integrative omics analysis incorporating cardiovascular magnetic resonance imaging pinpoints potentially druggable plasma proteins for cardiovascular diseases.Life metabolism · 2026Article
- Ectopic expression of MUC5B in the respiratory bronchiole initiates endoplasmic reticulum stress in the IPF lung.American journal of respiratory cell and molecular biology · 2026Article
- Association Between Single Nucleotide Polymorphisms and Disease Susceptibility, Survival, and Acute Exacerbation in Idiopathic Pulmonary Fibrosis.Respirology (Carlton, Vic.) · 2026Observational
- HLA-DRB3/4/5-based susceptibility profiles in nivolumab-induced type 1 diabetes and interstitial lung disease.Frontiers in immunology · 2026Article
- FAM13A polymorphism is associated with a usual interstitial pneumonia pattern in patients with systemic sclerosis-associated interstitial lung disease.Rheumatology (Oxford, England) · 2025Article
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- Progressive lung fibrosis: reprogramming a genetically vulnerable bronchoalveolar epithelium.The Journal of clinical investigation · 2025Review
- HLA-DR genotypes in patients with primary Sjögren's syndrome in Taiwan.The Kaohsiung journal of medical sciences · 2024Article
- Genetics and Genomics of Pulmonary Fibrosis: Charting the Molecular Landscape and Shaping Precision Medicine.American journal of respiratory and critical care medicine · 2024Review
- Highlights on Future Treatments of IPF: Clues and Pitfalls.International journal of molecular sciences · 2024Review
- A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.American journal of respiratory cell and molecular biology · 2024Article
- Evidence for immune activation in pathogenesis of the HLA class II associated disease, podoconiosis.Nature communications · 2024Article
- Association study of human leukocyte antigen variants and idiopathic pulmonary fibrosis.ERJ open research · 2024Article
- Genome-wide association study identifies multiple HLA loci for sarcoidosis susceptibility.Human molecular genetics · 2023Article
- Psychological Stress-Induced Pathogenesis of Alopecia Areata: Autoimmune and Apoptotic Pathways.International journal of molecular sciences · 2023Review
6 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
53 authors at 15 institutions in 6 countries.
Funding
Abstract
backgroundFibrotic idiopathic interstitial pneumonias (fIIP) are a group of fatal lung diseases with largely unknown etiology and without definitive treatment other than lung transplant to prolong life. There is strong evidence for the importance of both rare and common genetic risk alleles in familial and sporadic disease. We have previously used genome-wide single nucleotide polymorphism data to identify 10 risk loci for fIIP. Here we extend that work to imputed genome-wide genotypes and conduct new RNA sequencing studies of lung tissue to identify and characterize new fIIP risk loci.
resultsWe performed genome-wide genotype imputation association analyses in 1616 non-Hispanic white (NHW) cases and 4683 NHW controls followed by validation and replication (878 cases, 2017 controls) genotyping and targeted gene expression in lung tissue. Following meta-analysis of the discovery and replication populations, we identified a novel fIIP locus in the HLA region of chromosome 6 (rs7887 P meta = 3.7 × 10(-09)). Imputation of classic HLA alleles identified two in high linkage disequilibrium that are associated with fIIP (DRB1*15:01 P = 1.3 × 10(-7) and DQB1*06:02 P = 6.1 × 10(-8)). Targeted RNA-sequencing of the HLA locus identified 21 genes differentially expressed between fibrotic and control lung tissue (Q < 0.001), many of which are involved in immune and inflammatory response regulation. In addition, the putative risk alleles, DRB1*15:01 and DQB1*06:02, are associated with expression of the DQB1 gene among fIIP cases (Q < 1 × 10(-16)).
conclusionsWe have identified a genome-wide significant association between the HLA region and fIIP. Two HLA alleles are associated with fIIP and affect expression of HLA genes in lung tissue, indicating that the potential genetic risk due to HLA alleles may involve gene regulation in addition to altered protein structure. These studies reveal the importance of the HLA region for risk of fIIP and a basis for the potential etiologic role of auto-immunity in fIIP.
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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.