Idiopathic Pulmonary Fibrosis Susceptibility Identified Via Genomic Markers

DNA strands
DNA strands
Altered expression of 14 genes in adults was associated with idiopathic pulmonary fibrosis susceptibility.

Altered expression in adults of 14 genes, including KIF15, MAD1L1 and DEPTOR, was associated with idiopathic pulmonary fibrosis (IPF) susceptibility, according to study results published in the American Journal of Respiratory and Critical Care Medicine.

Genome-wide data was analyzed from 3 independent case control collections of unrelated individuals of European ancestry. Genome-wide analysis of IPF susceptibility was conducted, with 2 separate independent case control collections used for replication and functional analysis. Susceptibility genes were determined by comparing the genomics of individuals with IPF with healthy controls.

Of the 11,259 study participants, 2668 were diagnosed with IPF and 8591 were healthy controls. A significant genome-wide association with IPF susceptibility was shown in 3 novel signals in KIF15, MAD1L1, and DEPTOR. In addition, 11 of the 17 previously reported signals for IPF were confirmed, including the genes TERC, TERT, DSP, 7q22.1, MUC5B, ATP11A, IVD, AKAP13, KANSL1, FAM13A, and DPP9.

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“We report new biological insights into IPF susceptibility and demonstrate that further studies to identify the genetic determinants of IPF susceptibility are needed,” the researchers wrote. “Our new signals of association with IPF susceptibility provide increased support for the importance of mTOR signaling in pulmonary fibrosis as well as the possible implication of mitotic spindle-assembly genes.”


Allen RJ, Guillen-Guio B, Oldham JM, et al. Genome-wide association study of susceptibility to idiopathic pulmonary fibrosis [published November 11, 2019]. Am J Respir Crit Care Med. doi:10.1164/rccm.201905-1017OC