title: Lung disease modifier genes in cystic fibrosis.
abstract: Cystic fibrosis (CF) is recognized as a single gene disorder. However, a considerable diversity in its clinical phenotype has been documented since the description of the disease. Identification of additional gene alleles, so called "modifier genes" that directly influence the phenotype of CF disease became a challenge in the late '90ies, not only for the insight it provides into the CF pathophysiology, but also for the development of new potential therapeutic targets. One of the most studied phenotype has been the lung disease severity as lung dysfunction is the major cause of morbidity and mortality in CF. This review details the results of two main genetic approaches that have mainly been explored so far: (1) an "a priori" approach, i.e. the candidate gene approach; (2) a "without a priori" approach, analyzing the whole genome by linkage and genome-wide association studies (GWAS), or the whole exome by exome sequencing.
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antonie , Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_s 938, CDR Saint-Antonie, Paris, France. Electronic address: loic.guillot@inserm.fr.
authors.forename: Loic
authors.initials: L
authors.lastname: Guillot
authors.affiliation: Centre Hospiyalo-Universitaire (CHU), Rennes, France.
authors.forename: Julie
authors.initials: J
authors.lastname: Beucher
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antonie , Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_s 938, CDR Saint-Antonie, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Tabary
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antonie , Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_s 938, CDR Saint-Antonie, Paris, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Le Rouzic
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antonie , Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_s 938, CDR Saint-Antonie, Paris, France; Hôpital Trousseau, Pediatric Respiratory Department, AP-HP, Paris, France.
authors.forename: Annick
authors.initials: A
authors.lastname: Clement
authors.affiliation: INSERM, UMR_S 938, CDR Saint-Antonie , Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR_s 938, CDR Saint-Antonie, Paris, France; Hôpital Trousseau, Pediatric Respiratory Department, AP-HP, Paris, France.
authors.forename: Harriet
authors.initials: H
authors.lastname: Corvol
mesh_terms: D000818:Animals; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D060045:Genes, Modifier; D006801:Humans
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR; Cystic fibrosis; Lung; Modifier genes; Physiopathology