Association of SP-B gene 9306 A/G polymorphism (rs7316) and risk of RDS

J Matern Fetal Neonatal Med. 2018 Nov;31(22):2965-2970. doi: 10.1080/14767058.2017.1359829. Epub 2017 Aug 7.

Abstract

Background: Respiratory distress syndrome (RDS) is a severe pulmonary disease predominantly affects preterm newborns. Polymorphisms of surfactant-protein genes have been mostly evaluated as the candidate contributors in genetics of RDS. However the results are divers in different studies. We aimed at investigating the association of surfactant protein B (SPB) gene 9306 A/G polymorphism (rs7316) with RDS development.

Method: Three hundred and eighty newborns with gestational age of less than 34 weeks were included in a multicenter case-control study. Respiratory distress (RD) was scored according to Downes' scoring system. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping.

Result: One hundred and eighty-four neonates showed RDS and 196 did not. Gestational age (GA) was significantly lower in the RDS group compared with the controls. AA genotype and A allele were found more frequently in the RDS group than the controls (96.2% versus 63.8% and 98.1% versus 80.6%, respectively) (p =.0001).

Conclusions: This is the first report of association of SFTPB rs7316 polymorphism with RDS development in Iranian newborns. The current study suggests that GA <28-weeks is the most important factor in predisposition to RDS. Genetic background in terms of SP-B gene might be involved in predisposition to RDS in premature neonates.

Keywords: Iran; RDS; SFTPB; SP-B 9306; rs7316.

Publication types

  • Multicenter Study

MeSH terms

  • Case-Control Studies
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Iran / epidemiology
  • Male
  • Polymorphism, Genetic
  • Pulmonary Surfactant-Associated Protein B / genetics*
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Respiratory Distress Syndrome, Newborn / mortality

Substances

  • Pulmonary Surfactant-Associated Protein B