Association of SCNN1A Single Nucleotide Polymorphisms with neonatal respiratory distress syndrome

• Published in: Scientific reports Vol. 5; no. 1; p. 17317
• Main Authors: Li, Wang, Long, Chen, Renjun, Li, Zhangxue, Hu, Yin, Hu, Wanwei, Li, Juan, Ma, Yuan, Shi
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 27.11.2015; Nature Publishing Group
• Subjects: 45/22; 692/308/2056; 692/308/2779/109/2425; 692/308/3187; Alleles; Birth Weight; Case-Control Studies; Epithelial Sodium Channels - genetics; Female; Gene Expression; Gene Frequency; Genetic Predisposition to Disease; Gestational Age; Humanities and Social Sciences; Humans; Infant, Newborn; Infant, Premature; Logistic Models; Male; multidisciplinary; Polymorphism, Single Nucleotide; Pulmonary Surfactants - therapeutic use; Respiratory Distress Syndrome, Newborn - diagnosis; Respiratory Distress Syndrome, Newborn - drug therapy; Respiratory Distress Syndrome, Newborn - genetics; Respiratory Distress Syndrome, Newborn - pathology; Science; Science (multidisciplinary); Sex Factors
• ISSN: 2045-2322; 2045-2322
• DOI: 10.1038/srep17317

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.