Idiopathic pulmonary fibrosis: 3 novel genes identified


  • Heather Mason
  • Univadis Medical News
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A recent study published in the  American Journal of Respiratory and Critical Care Medicine , reveals three new genes with significant association to idiopathic pulmonary fibrosis (IPF). 

Genome-wide analyses across three independent studies were carried out, generating the largest genome-wide study of IPF to date with 2,668 cases and 8,591 controls. 

Three new genome-wide significant signals of association with IPF susceptibility with altered gene expression of KIF15, MAD1L1, and DEPTOR, were identified, each with confirmed associations at 11 previously reported loci.

The significance of these locations is that tumour growth factor-β (TGFb)-induced DEPTOR suppression can stimulate collagen synthesis, recently demonstrated in fibrogenesis.

MAD1L1 mutations have been associated with multiple cancers and may reduce telomerase activity. The implications of both KIF15 and MAD1L1 suggest a possible role of mitotic spindle-assembly genes. While some IPF susceptibility genes are important in general lung health, others are likely to represent more disease-specific processes. 

Decreased DEPTOR expression demonstrates the importance of the mammalian target of rapamycin (mTOR) signalling in lung fibrosis, the study authors said.

IPF is highly polygenic with many variants associated with disease susceptibility. They said these new signals provide increased support for the importance of mTOR signalling in IPF and the possible implication of mitotic spindle-assembly genes.