Korean J Pediatr.  2014 Apr;57(4):157-163. 10.3345/kjp.2014.57.4.157.

Genetic risk factors associated with respiratory distress syndrome

  • 1Department of Pediatrics, CHA Bundang Medical Center, CHA University, Seongnam, Korea. joneona@cha.ac.kr


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.


Newborn respiratory distress syndrome; Genetic polymorphism; Pulmonary surfactant-associated proteins

MeSH Terms

Genetic Predisposition to Disease
Infant, Newborn
Infant, Premature
Polymorphism, Genetic
Pulmonary Surfactant-Associated Proteins
Pulmonary Surfactants
Risk Factors*
Pulmonary Surfactant-Associated Proteins
Pulmonary Surfactants
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