posted on 2022-06-15, 10:39authored byRichard 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