Richard J. Allen
Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis
Allen, Richard J.; Stockwell, Amy; Oldham, Justin M.; Guillen-Guio, Beatriz; Schwartz, David A.; Maher, Toby M.; Flores, Carlos; Noth, Imre; Yaspan, Brian L.; Jenkins, R. Gisli; Wain, Louise V.
Authors
Amy Stockwell
Justin M. Oldham
Beatriz Guillen-Guio
David A. Schwartz
Toby M. Maher
Carlos Flores
Imre Noth
Brian L. Yaspan
R. Gisli Jenkins
Louise V. Wain
Contributors
Professor Simon Hart S.Hart@hull.ac.uk
Researcher
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.
Citation
Allen, R. J., Stockwell, A., Oldham, J. M., Guillen-Guio, B., Schwartz, D. A., Maher, T. M., Flores, C., Noth, I., Yaspan, B. L., Jenkins, R. G., & Wain, L. V. (2022). Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis. Thorax, 77, 829-833. https://doi.org/10.1136/thoraxjnl-2021-218577
Journal Article Type | Article |
---|---|
Acceptance Date | Mar 24, 2022 |
Online Publication Date | Jun 10, 2022 |
Publication Date | Jul 25, 2022 |
Deposit Date | Aug 2, 2022 |
Journal | Thorax |
Print ISSN | 0040-6376 |
Publisher | BMJ Publishing Group |
Peer Reviewed | Peer Reviewed |
Volume | 77 |
Pages | 829-833 |
DOI | https://doi.org/10.1136/thoraxjnl-2021-218577 |
Public URL | https://hull-repository.worktribe.com/output/4044374 |
Related Public URLs | https://leicester.figshare.com/articles/journal_contribution/Genome-wide_association_study_across_five_cohorts_identifies_five_novel_loci_associated_with_idiopathic_pulmonary_fibrosis/20072192 |
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