Idiopathic pulmonary fibrosis (IPF) is a devastating disease where the lungs become scarred. It is not known what causes the scarring, but there have been 17 regions of the genome that have been reported as associated with increased susceptibility to IPF from previous genome-wide association studies. These identify host defense (particularly mucus production), cell–cell adhesion, signaling, and telomere maintenance as important processes in the development of lung fibrosis.
By combining all previous IPF genome-wide association studies, we have identified three novel regions of the genome identified with IPF risk and confirmed 11 of the 17 previously reported regions. The three novel regions implicate the genes DEPTOR, KIF15, and MAD1L1. These findings support recent research that shows mTOR signaling promotes lung fibrogenesis and also implicate spindle-assembly genes in the development of IPF.
