title: Changing incidence of cystic fibrosis in Wisconsin, USA.
abstract: BACKGROUND
  Previous investigations of cystic fibrosis (CF) incidence in Massachusetts, Colorado, and Minnesota (USA) yielded contradictory results, particularly regarding allele p.Phe508del; the racial compositions of the cohorts were not reported.
  
  
  OBJECTIVE
  To clarify discrepancies in reported incidence with the ultimate goal of improving screening and quality of care, we assessed CF incidence, stratified by race and mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in Wisconsin (USA) from 1994 to 2011.
  
  
  METHODS
  Data on patients diagnosed with CF (N = 283), CFTR genotypes, CF carriers, and birth rate were collected. All data were categorized by racial background of the birth mother and the incidence of CF births was accordingly adjusted. Spearman's nonparametric rank correlation and Fisher's exact test were performed for continuous and categorical variables, respectively. Trends over time were fitted with a cubic spline.
  
  
  RESULTS
  We detected a trending increase in CF cases (range within all data 1.67-2.98 per 10,000 births per year), homozygous p.Phe508del cases (0.57-1.79 per 10,000), heterozygous p.Phe508del cases (0.29-1.55 per 10,000), and cases lacking p.Phe508del (0-0.45 per 10,000). Both the number of cases lacking the p.Phe508del mutation per year and the number of cases lacking p.Phe508del per 10,000 births significantly increased (P = 0.05) from 1994 to 2011; the increase in overall incidence was not significant. The number of carriers identified through newborn screening significantly increased within the non-Hispanic Black (P = 0.0.021) and Hispanic (P = 0.003) populations.
  
  
  CONCLUSIONS
  The racial composition of the CF cohort is changing in Wisconsin, possibly influencing disease detection, care, and outcome.
authors.affiliation: Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Katelyn
authors.initials: K
authors.lastname: Parker-McGill
authors.affiliation: Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.|Quantitative Health Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Melodee
authors.initials: M
authors.lastname: Nugent
authors.affiliation: Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Rachel
authors.initials: R
authors.lastname: Bersie
authors.affiliation: Wisconsin State Lab of Hygiene, Madison, Wisconsin.
authors.forename: Gary
authors.initials: G
authors.lastname: Hoffman
authors.affiliation: Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Michael
authors.initials: M
authors.lastname: Rock
authors.affiliation: Wisconsin State Lab of Hygiene, Madison, Wisconsin.|Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Mei
authors.initials: M
authors.lastname: Baker
authors.affiliation: Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin.
authors.forename: Philip M
authors.initials: PM
authors.lastname: Farrell
authors.affiliation: Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.|Quantitative Health Sciences, Medical College of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Pippa
authors.initials: P
authors.lastname: Simpson
authors.affiliation: Children's Research Institute, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.|Division of Pulmonary and Sleep Medicine, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
authors.forename: Hara
authors.initials: H
authors.lastname: Levy
mesh_terms: D000483:Alleles; D003550:Cystic Fibrosis / Q000453:epidemiology* / Q000235:genetics; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D015994:Incidence; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D015997:Neonatal Screening; D012189:Retrospective Studies; D014922:Wisconsin / Q000453:epidemiology
chemical_list: D019005:Cystic Fibrosis Transmembrane Conductance Regulator
keywords: CFTR mutation; epidemiology; incidence of CFTR; race