https://doi.org/10.1164/rccm.201905-1017OC

Idiopathic pulmonary fibrosis (IPF) is characterized by the build-up of scar tissue in the lungs. It is believed that the damage to the alveolar epithelium is followed by an aberrant wound healing response leading to the deposition of dense fibrotic tissue, reducing the lungs’ flexibility and inhibiting gas transfer. IPF still has limited therapeutic interventions and a high mortality rate within 3-5 years from diagnosis. To date, genome-wide association studies (GWAS) of IPF susceptibility have associated common variants (minor allele frequency [MAF]>5%) near genes involved in host defence, telomere maintenance, cell-cell adhesion and signalling in disease susceptibility. Meta-analysis of GWAS of IPF susceptibility. Building up on published GWAS results (PMID: 24429156, 23583980, 29066090) and novel study samples, we have performed the largest GWAS of IPF susceptibility to date to identify novel genes and further advance in the understanding of IPF pathogenesis and risk (bioRxiv https://doi.org/10.1101/636761 and PMID:31710517). The discovery stage of the study comprised up to 2,668 IPF cases and 8,591 controls from 3 studies (Chicago study: 541 IPF cases and 542 controls, Colorado study: 1515 fibrotic Idiopathic Interstitial pneumonia cases and 4683 controls, UK Study: 612 IPF cases and 3366 controls) and replication was pursued in an additional 1,456 IPF cases and 11,874 controls. The genome-wide association study summary statistics from the meta-analysis of three studies totalling 2,668 cases and 8,591 controls are available here.