KIF15 missense variant is associated with the early onset of idiopathic pulmonary fibrosis.

ABSTRACT:

Background

Idiopathic pulmonary fibrosis (IPF) has an unknown aetiology and limited treatment options. A recent meta-analysis identified three novel causal variants in the TERT, SPDL1, and KIF15 genes. This observational study aimed to investigate whether the aforementioned variants cause clinical phenotypes in a well-characterised IPF cohort.

Methods

The study consisted of 138 patients with IPF who were diagnosed and treated at the Helsinki University Hospital and genotyped in the FinnGen FinnIPF study. Data on > 25 clinical parameters were collected by two pulmonologists who were blinded to the genetic data for patients with TERT loss of function and missense variants, SPDL1 and KIF15 missense variants, and a MUC5B variant commonly present in patients with IPF, or no varia

SUBMITTER: Hollmen M 

PROVIDER: S-EPMC10543873 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature