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Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics |
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| Author: | Partanen, Juulia J.1; Häppölä, Paavo1; Zhou, Wei2,3,4; |
| Organizations: |
1Institute for Molecular Medicine, Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland 2Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA 3Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA
4Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA
5Individualized Drug Therapy Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland 6Department of Pulmonary Medicine, Heart and Lung Center, Helsinki University Hospital, Helsinki, Finland 7Department of Health Sciences, University of Leicester, Leicester, UK 8Human Genetics, Genentech, South San Francisco, CA, USA 9Division of Pulmonary, Critical Care and Sleep Medicine, Department of Internal Medicine, University of California, Davis, Sacramento, CA, USA 10Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA 11Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, USA 12Department of Medicine, University of Colorado, Aurora, CO, USA 13Center for Genes, Environment and Health, National Jewish Health, Denver, CO, USA 14Research Unit, Hospital Universitario Ntra. Sra. de Candelaria, Santa Cruz de Tenerife, Spain 15CIBER de Enfermedades Respiratorias, Instituto de Salud Carlos III, Madrid, Spain 16Genomics Division, Instituto Tecnológico y de Energías Renovables (ITER), Santa Cruz de Tenerife, Spain 17Faculty of Health Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain 18Division of Pulmonary and Critical Care Medicine, Department of Medicine, University of Virginia, Charlottesville, VA, USA 19National Heart and Lung Institute, Imperial College London, London, UK 20Royal Brompton and Harefield Hospitals, Guy's and St Thomas' NHS Foundation Trust, London, UK 21National Institute for Health Research, Leicester Respiratory Biomedical Research Centre, Glenfield Hospital, Leicester, UK 22Faculty of Medicine, University of Helsinki, Helsinki, Finland 23Department of Public Health, University of Helsinki, Helsinki, Finland 24Department of Mathematics and Statistics, University of Helsinki, Helsinki, Finland 25Administration Center, Tampere University Hospital and University of Tampere, Tampere, Finland 26Research Unit of Internal Medicine, University of Oulu, Oulu, Finland 27Medical Research Center Oulu, Oulu University Hospital, Oulu, Finland |
| Format: | article |
| Version: | published version |
| Access: | open |
| Online Access: | PDF Full Text (PDF, 2.1 MB) |
| Persistent link: | http://urn.fi/urn:nbn:fi-fe2023062057074 |
| Language: | English |
| Published: |
Elsevier,
2022
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| Publish Date: | 2023-06-20 |
| Description: |
SummaryThe research of rare and devastating orphan diseases, such as idiopathic pulmonary fibrosis (IPF) has been limited by the rarity of the disease itself. The prognosis is poor—the prevalence of IPF is only approximately four times the incidence, limiting the recruitment of patients to trials and studies of the underlying biology. Global biobanking efforts can dramatically alter the future of IPF research. We describe a large-scale meta-analysis of IPF, with 8,492 patients and 1,355,819 population controls from 13 biobanks around the globe. Finally, we combine this meta-analysis with the largest available meta-analysis of IPF, reaching 11,160 patients and 1,364,410 population controls. We identify seven novel genome-wide significant loci, only one of which would have been identified if the analysis had been limited to European ancestry individuals. We observe notable pleiotropy across IPF susceptibility and severe COVID-19 infection and note an unexplained sex-heterogeneity effect at the strongest IPF locus MUC5B. see all
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| Series: |
Cell genomics |
| ISSN: | 2666-979X |
| ISSN-E: | 2666-979X |
| ISSN-L: | 2666-979X |
| Volume: | 2 |
| Article number: | 100181 |
| DOI: | 10.1016/j.xgen.2022.100181 |
| OADOI: | https://oadoi.org/10.1016/j.xgen.2022.100181 |
| Type of Publication: |
A1 Journal article – refereed |
| Field of Science: |
3121 General medicine, internal medicine and other clinical medicine |
| Subjects: | |
| Copyright information: |
© 2022 The Author(s). This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
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https://creativecommons.org/licenses/by-nc-nd/4.0/ |