Candidate gene analysis of the surfactant protein D gene in pediatric diffuse lung disease.
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.
Section of Pediatric Pulmonology and Sleep Medicine, Department of Pediatrics, Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC. Electronic address: wgower@wakehealth.edu.
W Adam
WA
Gower
Lawrence M
LM
Nogee
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D056726:Genetic Association Studies; D006801:Humans; D007223:Infant; D008171:Lung Diseases / Q000235:genetics*; D011446:Prospective Studies; D037663:Pulmonary Surfactant-Associated Protein D / Q000235:genetics*; D055815:Young Adult
D037663:Pulmonary Surfactant-Associated Protein D
DLD; Diffuse lung disease; SFTPD; SNP; SP; Single nucleotide polymorphism; Surfactant protein; Surfactant protein D gene