Quantification of the relative contribution of environmental and genetic factors to variation in cystic fibrosis lung function

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Objective: To assess the relative contributions of environmental and genetic factors to variation in cystic fibrosis (CF) lung disease. Study design: Genetic and environmental contributions were quantified by use of intrapair correlations and differences in CF-specific forced expiratory volume in 1 second measures from 134 monozygous twins and 272 dizygous twins and siblings while in different living environments (ie, living with parents vs living alone), as well as by use of intraindividual differences in pulmonary function from a separate group of 80 siblings. Results: Pulmonary function among monozygous twins was more similar than among dizygous twin and sibling pairs, regardless of living environment, affirming the role of genetic modifiers in CF pulmonary function. Regression modeling revealed that genetic factors account for 50% of pulmonary function variation, unique environmental or stochastic factors (36%), and shared environmental factors (14%; P < .0001). The intraindividual analysis produced similar estimates for the contributions of the unique and shared environment. The shared environment effects appeared primarily because of living with a sibling with CF (P = .003), rather than factors within the parental household (P = .310). Conclusions: Genetic and environmental factors contribute equally to pulmonary function variation in CF. Environmental effects are dominated by unique and stochastic effects rather than common exposures.

Original languageEnglish (US)
Pages (from-to)802-807.e3
JournalJournal of Pediatrics
Issue number5
StatePublished - Nov 2010



  • Analysis of variance
  • CF
  • CFTR
  • Cystic fibrosis
  • Cystic fibrosis transmembrane conductance regulator gene
  • Forced expiratory volume in 1 second

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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