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Genome-wide association study across five cohorts identifies five novel loci associated with idiopathic pulmonary fibrosis

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posted on 15.06.2022, 10:39 authored by 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
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.

Funding

Pulmonary Fibrosis Mike Bray Research Fellow

GSK/Asthma + Lung UK Chair in Respiratory Research (C17-1)

National Institute of Health/National Heart, Lung and Blood Institute grant numbers R56HL158935and K23HL138190

Wellcome Trust grant number 221680/Z/20/Z

National Institute for Health Research (NIHR) Leicester Biomedical Research Centre

History

Citation

Thorax. 2022 Jun 10;thoraxjnl-2021-218577. doi: 10.1136/thoraxjnl-2021-218577.

Author affiliation

Department of Health Sciences, University of Leicester

Version

AM (Accepted Manuscript)

Published in

Thorax

Publisher

BMJ

issn

0040-6376

eissn

1468-3296

Acceptance date

24/03/2022

Copyright date

2022

Available date

15/06/2022

Language

en

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