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.

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
• 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