Publication:

Endothelial nitric oxide synthase gene glu298asp polymorphism in preterm neonates with respiratory distress syndrome

Background Neonatal respiratory distress syndrome (RDS) is a multifactorial disease of preterm influenced by many factors including gene polymorphism. The aim of the present study was to determine the effect of endothelial nitric oxide synthase gene glu298asp polymorphism (rs1799983) in developing and grading of RDS in preterm neonates.

Methods This study was performed on 65 preterm neonates; 40 with RDS and 25 healthy controls. Genotyping of endothelial nitric oxide synthase gene glu298asp polymorphism was performed by restriction fragment length polymorphism.

Results There were statistical significant increases in TT, (GT+TT) genotypes and T allele frequencies of rs1799983 among RDS neonates compared to controls. As groups were categorized by gestational age; TT genotype and T allele frequencies were statistically significantly increased in 33-35weeks RDS neonates compared to controls. TT genotype in RDS was associated with RDS grade III, mechanical ventilation need, and increased mortality. TT genotype, T allele, gestational age (<28-32weeks) and birth weight (<1500grams) were predictor factors for RDS in binary logistic regression analysis.

Conclusions eNOS glu298asp polymorphism could be implicated in RDS pathophysiology and may affect the disease severity and outcome. TT, GT+TT Genotypes and T allele might be predisposing risk factors for RDS in preterms. TT genotype and T allele might be of the predictors of neonatal RDS.