Disease modifying genes in cystic fibrosis.
The variation in cystic fibrosis (CF) lung disease and development of CF related complications correlates poorly with the genotype of the CF transmembrane regulator (CFTR) and with environmental factors. Increasing evidence suggests that phenotypic variation in CF can be attributed to genetic variation in genes other than the CFTR gene, so-called modifier genes. In recent years, multiple candidate modifier genes have been investigated in CF, especially genes that are involved in the control of infection, immunity and inflammation. Some of these genes have been rather conclusively identified as modifiers of the CF phenotype, whereas associations found in other genes have not been confirmed or are conflicting. Identification of genetic variation in modifier genes, obtained by genotype-phenotype studies in well-defined patient populations, may be used as an aid to prognosis and may provide the possibility of new therapeutic interventions.
Slieker
Martijn G
MG
Cystic Fibrosis Center Utrecht, University Medical Center Utrecht, P.O. Box 85090, 3508AB Utrecht, The Netherlands. m.g.slieker@umcutrecht.nl
Sanders
Elisabeth A M
EA
Rijkers
Ger T
GT
Ruven
Henk J T
HJ
van der Ent
Cornelis K
CK
D003550:Cystic Fibrosis / Q000235:genetics* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005838:Genotype; D006801:Humans; D010641:Phenotype
D019005:Cystic Fibrosis Transmembrane Conductance Regulator