Adam19 Deficiency Impacts Pulmonary Function: Human GWAS Follow-up in a Mouse Knockout Model.

ABSTRACT:

Purpose

Over 550 loci have been associated with human pulmonary function in genome-wide association studies (GWAS); however, the causal role of most remains uncertain. Single nucleotide polymorphisms in a disintegrin and metalloprotease domain 19 (ADAM19) are consistently related to pulmonary function in GWAS. Thus, we used a mouse model to investigate the causal link between Adam19 and pulmonary function.

Methods

We created an Adam19 knockout (KO) mouse model and validated the gene targeting using RNA-Seq and RT-qPCR. Mouse body composition was assessed using dual-energy X-ray absorptiometry. Mouse lung function was measured using flexiVent.

Results

Contrary to prior publications, the KO was not neonatal lethal. KO mice had lower body weight and shorter tibial length

SUBMITTER: Li H 

PROVIDER: S-EPMC11427501 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature