학술논문
DNA sequencing analysis of cystic fibrosis transmembrane conductance regulator gene identifies cystic fibrosis-associated variants in the Severe Asthma Research Program.
Document Type
article
Author
Izquierdo, Manuel E; Marion, Chad R; Moore, Wendy C; Raraigh, Karen S; Taylor-Cousar, Jennifer L; Cutting, Gary R; Ampleford, E; Hawkins, Gregory A; Zein, Joe; Castro, M; Denlinger, Loren C; Erzurum, Serpil C; Fahy, John V; Israel, Elliot; Jarjour, Nizar N; Mauger, David; Levy, Bruce D; Wenzel, Sally E; Woodruff, Prescott; Bleecker, Eugene R; Meyers, Deborah A; Ortega, Victor E
Source
Pediatric Pulmonology. 57(7)
Subject
Language
Abstract
BackgroundHeterozygote carriers of potentially pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have increased asthma risk. However, the frequency and impact of CFTR variation among individuals with asthma is unknown.ObjectiveTo determine whether potentially pathogenic CFTR variants associate with disease severity and whether individuals with two potentially pathogenic variants exist in a severe asthma-enriched cohort.MethodsWe analyzed sequencing data spanning a 190.5Kb region of CFTR in participants from the Severe Asthma Research Program (SARP1-3). Potentially pathogenic, rare CFTR variants (frequency G] and one Arg1070Trp) and a homozygote for the VVCC, 5 T; TG12.ConclusionsWe 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.