Surfactant protein A and B genetic variants predispose to idiopathic pulmonary fibrosis

Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic varian...

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Veröffentlicht in:	Human genetics 2003-11, Vol.113 (6), p.542-550
Hauptverfasser:	SELMAN, Moises, LIN, Hung-Mo, LANG, C. Max, PARDO, Annie, PHELPS, David S, FLOROS, Joanna, MONTANO, Martha, JENKINS, Audrey L, ESTRADA, Andrea, ZHENWU LIN, GUIRONG WANG, DIANGELO, Susan L, XIAOXUAN GUO, UMSTEAD, Todd M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Amino acids Arginine Biological and medical sciences Chromosomes Classical genetics, quantitative genetics, hybrids Cytokines Female Fundamental and applied biological sciences. Psychology Genes Genetic aspects Genetic Predisposition to Disease Genetic research Genetics of eukaryotes. Biological and molecular evolution Human Humans Lung diseases Male Medical schools Medical sciences Medicine Middle Aged Mutation Pathogenesis Pneumology Polymorphism, Single Nucleotide Proteins Pulmonary fibrosis Pulmonary Fibrosis - genetics Pulmonary Fibrosis - physiopathology Pulmonary Surfactant-Associated Protein A - chemistry Pulmonary Surfactant-Associated Protein A - genetics Pulmonary Surfactant-Associated Protein A - metabolism Pulmonary Surfactant-Associated Protein B - genetics Pulmonary Surfactant-Associated Protein C - genetics Pulmonary Surfactant-Associated Protein D - genetics Respiratory system : syndromes and miscellaneous diseases Risk factors Single nucleotide polymorphisms Smokers Spectrophotometry Surface active agents Surfactants University colleges
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Zusammenfassung:	Derangement in pulmonary surfactant or its components and alveolar collapse are common findings in idiopathic pulmonary fibrosis (IPF). Surfactant proteins play important roles in innate host defense and normal function of the lung. We examined associations between IPF and genetic polymorphic variants of surfactant proteins, SP-A1, SP-A2, SP-B, SP-C, and SP-D. One SP-A1 (6A(4)) allele and single nucleotide polymorphisms (SNPs) that characterize the 6A(4) allele, and one SP-B (B1580_C) were found with higher frequency ( P
ISSN:	0340-6717 1432-1203
DOI:	10.1007/s00439-003-1015-4