Genome-wide Association Study Across Five Cohorts Identifies Five Novel Loci Associated with Idiopathic Pulmonary Fibrosis

Overview

Journal Thorax

Date 2022 Jun 10

PMID 35688625

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

Affiliations

Soon will be listed here.

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.

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