Abstract
Increasing evidence has demonstrated that lung fluid absorption disorders might be an important cause of neonatal respiratory distress syndrome (RDS) by influencing gas exchange or surfactant function. The SCNN1A gene, which encodes the α-ENaC, might predispose infants to RDS. To explore whether the single-nucleotide polymorphisms (SNPs) of SCNN1A are associated with RDS, we conducted a case-control study to investigate the RDS-associated loci in Han Chinese infants. Seven target SNPs were selected from the SCNN1A gene and were genotyped using the improved multiplex ligase detection reaction (iMLDR). In the total sample, only rs4149570 was associated with NRDS; this association was further confirmed in logistic regression analysis after adjusting for birth weight, gestational age and sex. In the subgroup of infants whose gestational age was 37 weeks and older, in addition to rs4149570, rs7956915 also showed a significant association with RDS. Interestingly, these associations were only observed in term infants. No significant association was observed between the target SNPs and the risk of RDS in preterm infants. We report for the first time that the rs4149570 and rs7956915 polymorphisms of SCNN1A might play important roles in the susceptibility to RDS, particularly in term infants.
Highlights
Respiratory distress syndrome (RDS) is one of the most important causes of morbidity and mortality in newborns, in those infants born prematurely[1,2,3]
Lung tissue slices taken during autopsies of near-term and term infants who died of neonatal respiratory distress syndrome (RDS) showed that, in addition to alveolar collapse from a lack of surfactant, some alveoli were obviously dilated, with a large amount of lung fluid
We found that some near-term and term infants with RDS that developed from lung fluid absorption disorders showed no obvious signs of infection; their mothers did not have any possible risk factors for RDS during pregnancy
Summary
Respiratory distress syndrome (RDS) is one of the most important causes of morbidity and mortality in newborns, in those infants born prematurely[1,2,3]. Lung tissue slices taken during autopsies of near-term and term infants who died of neonatal respiratory distress syndrome (RDS) showed that, in addition to alveolar collapse from a lack of surfactant, some alveoli were obviously dilated, with a large amount of lung fluid. These findings align with those of previous studies[7,8,9] that suggested that lung fluid absorption disorders might be an important cause of RDS by influencing gas exchange or surfactant function, in near-term and term infants. 7 target single-nucleotide polymorphisms (SNPs) within the SCNN1A gene to assess the association between α -ENaC and RDS in a Chinese cohort
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