title: The influence of genetics on cystic fibrosis phenotypes.
abstract: Technological advances in genetics have made feasible and affordable large studies to identify genetic variants that cause or modify a trait. Genetic studies have been carried out to assess variants in candidate genes, as well as polymorphisms throughout the genome, for their associations with heritable clinical outcomes of cystic fibrosis (CF), such as lung disease, meconium ileus, and CF-related diabetes. The candidate gene approach has identified some predicted relationships, while genome-wide surveys have identified several genes that would not have been obvious disease-modifying candidates, such as a methionine sulfoxide transferase gene that influences intestinal obstruction, or a region on chromosome 11 proximate to genes encoding a transcription factor and an apoptosis controller that associates with lung function. These unforeseen associations thus provide novel insight into disease pathophysiology, as well as suggesting new therapeutic strategies for CF.
authors.affiliation: Cystic Fibrosis-Pulmonary Research and Treatment Center, University of North Carolina at Chapel Hill, Chapel Hill, NC 27514, USA. michael_knowles@med.unc.edu
authors.forename: Michael R
authors.initials: MR
authors.lastname: Knowles
authors.forename: Mitchell
authors.initials: M
authors.lastname: Drumm
mesh_terms: D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000150:complications; D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D060045:Genes, Modifier / Q000235:genetics; D008040:Genetic Linkage; D005819:Genetic Markers / Q000235:genetics; D055106:Genome-Wide Association Study; D006720:Homozygote; D006801:Humans; D008107:Liver Diseases / Q000235:genetics; D008171:Lung Diseases / Q000235:genetics; D037241:Mannose-Binding Lectins / Q000502:physiology; D008470:Meconium / Q000502:physiology; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D005819:Genetic Markers; D037241:Mannose-Binding Lectins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator