Haplotypes of surfactant protein C are associated with common paediatric lung diseases
Autor: | Jessica Heinze, Johannes Forster, Marcus Krueger, Andrea Heinzmann, Beena Puthothu |
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Rok vydání: | 2006 |
Předmět: |
Adult
Lung Diseases Paramyxoviridae Genetic Linkage Immunology Mutation Missense Respiratory Syncytial Virus Infections Cohort Studies medicine Genetic predisposition Humans Immunology and Allergy Genetic Predisposition to Disease Prospective Studies Child Mononegavirales Polymorphism Genetic Lung biology business.industry Respiratory disease Haplotype Age Factors Infant Newborn Surfactant protein C Pneumovirus medicine.disease biology.organism_classification Pulmonary Surfactant-Associated Protein C Virology Asthma medicine.anatomical_structure Haplotypes Case-Control Studies Pediatrics Perinatology and Child Health business |
Zdroj: | Pediatric Allergy and Immunology. 17:572-577 |
ISSN: | 1399-3038 0905-6157 |
DOI: | 10.1111/j.1399-3038.2006.00467.x |
Popis: | Surfactant protein C is part of the surfactant complex lining up the alveoles and thereby inhibiting collapse of the airways. In addition it is involved in innate immune responses. Rare polymorphisms within surfactant protein C have been linked to sporadic paediatric lung diseases, like proteinosis or interstitial lung diseases. One study in the Finnish population described association of common polymorphisms with neonatal respiratory syndrome. Other common lung diseases have not yet been investigated for association with this gene. The aim of this study was to test surfactant protein C for association with bronchial asthma and with severe respiratory syncytial virus associated diseases in infancy. The two common amino acid variants Asnl38Thr and Asnl86Ser were genotyped on 322 children with asthma, 131 children with severe respiratory syncytial virus associated diseases and 270 controls. Statistical analyses of single polymorphisms made use of the Armitage's trend test; haplotypes were calculated with FAMHAP and FASTEHPLUS. Polymorphisms were in Hardy -Weinberg equilibrium and in tight linkage equilibrium in all populations. Single polymorphisms showed no association with the diseases, however, surfactant protein C haplotypes were associated with severe respiratory syncytial virus associated diseases (p = 0.013). Furthermore, an inverse haplo-type distribution was found between children with asthma and respiratory syncytial virus infection (p = 0.00025). The results of our study might suggest opposing roles of surfactant Protein C in the genetic predisposition for respiratory syncytial virus associated diseases vs. asthma. The causal mechanism for this observation has still to be shown. |
Databáze: | OpenAIRE |
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