Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis
Year: 2022
Type: article
Abstract: Idiopathic pulmonary fibrosis (IPF) is a chronic lung condition with poor survival times. We previously published a genome-wide meta-analysis of IPF risk across three studies with independent replication of associated variants in two additional studies. To maximise power and to generate more accurate effect size estimates, we performed a genome-wide meta-analysis across all five studies included in the previous IPF risk genome-wide association studies. We used the distribution of effect sizes across the five studies to assess the replicability of the results and identified five robust novel genetic association signals implicating mTOR (mammalian target of rapamycin) signalling, telomere maintenance and spindle assembly genes in IPF risk.
Source: Thorax
Institutions: University of Leicester, Genentech, University of California, Davis, National Jewish Health, University of Colorado Denver, University of Southern California, Royal Brompton & Harefield NHS Foundation Trust, Harefield Hospital, Royal Brompton Hospital, Imperial College London, Instituto de Salud Carlos III, Hospital Universitario Nuestra Señora de Candelaria, Centro de Investigación Biomédica en Red de Enfermedades Respiratorias, Instituto Tecnológico y de Energías Renovables, University of Virginia, National Institute for Health and Care Research, NIHR Leicester Biomedical Research Centre
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Awards: Architectural structure and regulation of TOLLIP in IPF, Improving Pulmonary Fibrosis Classification with Genomics Informed Phenotypic Clusters, Elucidating the Genomic Determinants of Outcomes in Idiopathic Pulmonary Fibrosis, Genomic epidemiology of acute respiratory distress syndrome and fibrosis in patients with COVID-19, G2904642737, Derivation and validation of a clinical-molecular signature to predict fibrotic progression and treatment response in patients with autoimmune interstitial lung disease, MICA: Defining Endotypes of Pulmonary Fibrosis by Understanding the Functional Consequences of Known, and Novel, Genetic Associations with Disease, Developing a biomarker guided strategy to treat patients with pulmonary fibrosis, A randomized, double blind controlled trial comparing rituximab against intravenous cyclophosphamide in connective tissue disease associated interstitial lung disease, NIHR Senior Investigator Award, Improving clinical phenotyping of interstitial lung disease for better diagnosis and disease management
OpenAlex ID: W4281673081