| Title: | Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics |
| Journal: | Cell Genomics |
| Published: | 12 Oct 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/36777997/ |
| DOI: | https://doi.org/10.1016/j.xgen.2022.100181 |
| URL: | https://helda.helsinki.fi/bitstream/10138/355828/1/Leveraging_global_multi_ancestry_meta_a...pdf |
Publication 10562
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Abstract
The 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.</p>
29 Authors
- Juulia J. Partanen
- Paavo Häppölä
- Wei Zhou
- Arto A. Lehisto
- Mari Ainola
- Eva Sutinen
- Richard J. Allen
- Amy D. Stockwell
- Olivia C. Leavy
- Justin M. Oldham
- Beatriz Guillen-Guio
- Nancy J. Cox
- Jibril B. Hirbo
- David A. Schwartz
- Tasha E. Fingerlin
- Carlos Flores
- Imre Noth
- Brian L. Yaspan
- R. Gisli Jenkins
- Louise V. Wain
- Samuli Ripatti
- Matti Pirinen
- International IPF Genetics Consortium
- Global Biobank Meta-Analysis Initiative
- Tarja Laitinen
- Riitta Kaarteenaho
- Marjukka Myllärniemi
- Mark J. Daly
- Jukka T. Koskela
1 Application
| Application ID | Title |
|---|---|
| 31063 | Methodological extensions to estimate genetic heritability and shared risk factors for phenotypes of the UK Biobank |
Enabling scientific discoveries that improve human health