DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis-associated variants in the Severe Asthma Research Program.
Manuel E IzquierdoChad R MarionWendy C MooreKaren S RaraighJennifer L Taylor-CousarGarry R CuttingE AmplefordGregory A HawkinsJoe ZeinMario CastroLoren C DenlingerSerpil C ErzurumJohn V FahyElliot IsraelNizar N JarjourDavid MaugerBruce D LevySally E WenzelPrescott WoodruffEugene R BleeckerDeborah A MeyersVictor E OrtegaPublished in: Pediatric pulmonology (2022)
We found potentially pathogenic CFTR variants within a severe asthma-enriched cohort, including three compound heterozygote genotypes variably associated with CF in NHW individuals. These findings provide the rationale for CFTR sequencing and phenotyping of CF-related traits in individuals with severe asthma.