title: Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias.
abstract: Interstitial pneumonias have recently been associated with mutations in the gene encoding surfactant protein C (SFTPC). In particular, SFTPC mutations have been reported in a number of familial forms of pulmonary fibrosis and in infants with interstitial lung diseases. The present study searched for SFTPC mutations in adult patients with sporadic idiopathic interstitial pneumonia. In total, 35 adult patients with sporadic idiopathic interstitial pneumonia and 50 healthy subjects were investigated for SFTPC mutations by direct DNA sequencing. Of the patients with sporadic idiopathic interstitial pneumonia, 25 suffered from idiopathic pulmonary fibrosis and 10 patients from nonspecific interstitial pneumonia. Only two frequent nonsynonymous variants, T138N and S186N, were detected. Allele frequencies of both variations as well as of other identified noncoding alterations did not differ significantly between the diverse patient groups and control subjects. In conclusion, mutations in the gene encoding surfactant protein C are not common in sporadic cases of idiopathic pulmonary fibrosis and nonspecific interstitial pneumonia, suggesting that the mutated gene does not play an important role in the pathogenesis of these forms of idiopathic interstitial pneumonia.
authors.affiliation: Dept of Internal Medicine, Faculty of Medicine, University of Giessen Lung Center, Klinikstr. 36, 35392 Giessen, Germany. philipp.markart@innere.med.uni-giessen.de
authors.forename: P
authors.initials: P
authors.lastname: Markart
authors.forename: C
authors.initials: C
authors.lastname: Ruppert
authors.forename: M
authors.initials: M
authors.lastname: Wygrecka
authors.forename: R
authors.initials: R
authors.lastname: Schmidt
authors.forename: M
authors.initials: M
authors.lastname: Korfei
authors.forename: H
authors.initials: H
authors.lastname: Harbach
authors.forename: I
authors.initials: I
authors.lastname: Theruvath
authors.forename: U
authors.initials: U
authors.lastname: Pison
authors.forename: W
authors.initials: W
authors.lastname: Seeger
authors.forename: A
authors.initials: A
authors.lastname: Guenther
authors.forename: H
authors.initials: H
authors.lastname: Witt
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C