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http://dx.doi.org/10.3345/kjp.2014.57.4.157

Genetic risk factors associated with respiratory distress syndrome  

Jo, Heui Seung (Department of Pediatrics, CHA Bundang Medical Center, CHA University)
Publication Information
Clinical and Experimental Pediatrics / v.57, no.4, 2014 , pp. 157-163 More about this Journal
Abstract
Respiratory distress syndrome (RDS) among preterm infants is typically due to a quantitative deficiency of pulmonary surfactant. Aside from the degree of prematurity, diverse environmental and genetic factors can affect the development of RDS. The variance of the risk of RDS in various races/ethnicities or monozygotic/dizygotic twins has suggested genetic influences on this disorder. So far, several specific mutations in genes encoding surfactant-associated molecules have confirmed this. Specific genetic variants contributing to the regulation of pulmonary development, its structure and function, or the inflammatory response could be candidate risk factors for the development of RDS. This review summarizes the background that suggests the genetic predisposition of RDS, the identified mutations, and candidate genetic polymorphisms of pulmonary surfactant proteins associated with RDS.
Keywords
Newborn respiratory distress syndrome; Genetic polymorphism; Pulmonary surfactant-associated proteins;
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