title: Delta F508 genotype does not predict disease severity in an ethnically diverse cystic fibrosis population.
abstract: OBJECTIVE
  As part of a study to determine population-based frequencies of CFTR mutations in an ethnically diverse, midwestern cystic fibrosis (CF) population, clinical histories were studied in 119 CF patients.
  
  
  METHODS
  We sought to examine the association between genotype as characterized by the delta F508 and 11 other commonly occurring mutations and clinical parameters including age at diagnosis, clinical presentation, sweat chloride level, chest roentgenogram score, clinical scores, pulmonary function test results, percent weight for height, and presence of associated CF complications.
  
  
  RESULTS
  Age at diagnosis of CF was significantly associated with homozygosity for delta F508 (mean age at diagnosis +/- SE: 1.7 +/- 0.3 years for delta F508/delta F508 vs 3.9 +/- 0.9 years for delta F508/other and other/other; P = .03). No other age-adjusted clinical parameter was significantly associated with delta F508 or any other genotype.
  
  
  CONCLUSIONS
  These data suggest that in this sample of CF patients, delta F508 genotype is not predictive of disease severity. The lack of association between disease severity and genotype in this ethnically diverse sample may reflect the presence of more severe undetected mutations in our sample, or the effects of modifying genes at other, non-CF loci.
authors.affiliation: Department of Pediatrics, University of Chicago, IL.
authors.forename: L A
authors.initials: LA
authors.lastname: Lester
authors.forename: J
authors.initials: J
authors.lastname: Kraut
authors.forename: J
authors.initials: J
authors.lastname: Lloyd-Still
authors.forename: T
authors.initials: T
authors.lastname: Karrison
authors.forename: C
authors.initials: C
authors.lastname: Mott
authors.forename: C
authors.initials: C
authors.lastname: Billstrand
authors.forename: A
authors.initials: A
authors.lastname: Lemke
authors.forename: C
authors.initials: C
authors.lastname: Ober
mesh_terms: D000293:Adolescent; D002648:Child; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000503:physiopathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D005260:Female; D005541:Forced Expiratory Volume; D005838:Genotype; D006720:Homozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation; D011379:Prognosis
chemical_list: C505032:CFTR protein, human; D008565:Membrane Proteins; D019005:Cystic Fibrosis Transmembrane Conductance Regulator