Impact of a Gap Junction Protein Alpha 4 Variant on Clinical Disease Phenotype in F508del Homozygous Patients With Cystic Fibrosis

ConclusionsIn carriers of the A allele (27.6%) the GJA4 variant is associated with significantly better protection against end-stage lung disease and superior pulmonary function test results in F508del homozygous patients. This SNP has the potential of a modifier gene for phenotyping severity of CF lung disease, in addition to the CFTR genotype.Clinical Trial RegistrationThe study was registered with ClinicalTrials.gov, number NCT04242420, retrospectively on January 24th, 2020.
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research