Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease

J Pediatr. 2013 Dec;163(6):1778-80. doi: 10.1016/j.jpeds.2013.06.063. Epub 2013 Aug 9.

Abstract

Mutations in surfactant-associated genes cause childhood diffuse lung disease. Mice lacking surfactant protein D develop lung disease with age. However, we identified no novel surfactant protein D gene (SFTPD) coding or splice region variants in 73 unrelated children with diffuse lung disease from a cohort enriched for genetic surfactant dysfunction.

Keywords: DLD; Diffuse lung disease; SFTPD; SNP; SP; Single nucleotide polymorphism; Surfactant protein; Surfactant protein D gene.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Genetic Association Studies*
  • Humans
  • Infant
  • Lung Diseases / genetics*
  • Prospective Studies
  • Pulmonary Surfactant-Associated Protein D / genetics*
  • Young Adult

Substances

  • Pulmonary Surfactant-Associated Protein D