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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

Richard J. Allen

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

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., …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
Publicly Available Date Mar 29, 2024
Journal Thorax
Print ISSN 0040-6376
Electronic ISSN 1468-3296
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