Faculty Collaboration Database

Changing incidence of cystic fibrosis in Wisconsin, USA. Pediatr Pulmonol 2015 Nov;50(11):1065-1072

Date

08/11/2015

Pubmed ID

26258862

Pubmed Central ID

PMC4615551

DOI

10.1002/ppul.23265

Scopus ID

2-s2.0-84945477625 (requires institutional sign-in at Scopus site)   18 Citations

Abstract

RATIONALE: 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.

OBJECTIVES: 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.

CONCLUSION: The racial composition of the CF cohort is changing in Wisconsin, possibly influencing disease detection, care, and outcome.

Author List

Parker-McGill K, Nugent M, Bersie R, Hoffman G, Rock M, Baker M, Farrell PM, Simpson P, Levy H

Author

Pippa M. Simpson PhD Adjunct Professor in the Pediatrics department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Alleles
Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Female
Genotype
Humans
Incidence
Infant, Newborn
Male
Mutation
Neonatal Screening
Retrospective Studies
Wisconsin