Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity

Cystic fibrosis (CF) is the most common severe autosomal recessive genetic disease in Caucasians caused by variants in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel expressed in epithelial cells throughout the body [1]. To date, over 2,000 variants in the CFTR gene have been identified world-wide. The international CF genetics research community has contributed these data to the CFTR2 database (http://www.cftr2.org), which provides information on different CFTR variants and their disease liability by a phenotype-driven approach [2].

Source: Journal of Cystic Fibrosis - November 12, 2019 Category: Respiratory Medicine Authors: Alekh Paranjapye, Manon Ruffin, Ann Harris, Harriet Corvol Tags: Original Article Source Type: research