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