Abstract |
Here, we describe the approach of defining the genetic contribution to disease and discuss the polymorphisms of some genes that are associated with respiratory disease. The common allelic variants of SP-A1, SP-A2, SP-B, SP-C, and SP-D genes are associated with respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), or respiratory syncytial virus (RSV) bronchiolitis. The main SP-A haplotype, interactively with SP-B Ile131Thr polymorphism and with constitutional and environmental factors, influences the risk of RDS. The polymorphisms of SP-A2 and SP-D are associated with the risk of severe RSV. The polymorphism may turn out to be important in susceptibility to influenza virus. The SP-B intron 4 deletion variant is the risk factor of BPD. Understanding the molecular mechanisms behind the hereditary risk may lead to new focused treatment strategies.
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Authors | Mikko Hallman, Ritva Haataja |
Journal | Seminars in perinatology
(Semin Perinatol)
Vol. 30
Issue 6
Pg. 350-61
(Dec 2006)
ISSN: 0146-0005 [Print] United States |
PMID | 17142161
(Publication Type: Journal Article, Review)
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Chemical References |
- Pulmonary Surfactant-Associated Proteins
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Topics |
- Genetic Predisposition to Disease
- Humans
- Hydrophobic and Hydrophilic Interactions
- Infant, Newborn
- Models, Biological
- Polymorphism, Genetic
- Pulmonary Surfactant-Associated Proteins
(chemistry, genetics, physiology)
- Respiratory Distress Syndrome, Newborn
(genetics, physiopathology)
- Risk Factors
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