Genetic Polymorphisms of SP-A, SP-B, and SP-D and Risk of Respiratory Distress Syndrome in Preterm Neonates

摘要

BACKGROUND We examined selected polymorphisms in 3 pulmonary surfactant-associated proteins ([i]SP[/i]) for their influence on serum SP levels and risk of respiratory distress syndrome (RDS) in preterm neonates. MATERIAL AND METHODS Premature infants from a Han population were enrolled, including 100 premature infants with RDS (case group) and 120 premature infants without RDS (control group). SNP genotyping for [i]SP-A[/i] (+186A/G and +655C/T), [i]SP-B[/i] (–18A/C and 1580C/T), and [i]SP-D[/i] (Met11ThrT/C and Ala160ThrG/A) used polymerase chain reaction-restriction fragment length polymorphism. Haplotypes were calculated with Shesis software and serum SP-A/B/D levels were quantified by ELISA. RESULTS Case and control groups exhibited significant differences in genotype and allele frequencies of [i]SP-A[/i] (+186A/G, +655C/T) and [i]SP-B[/i] (1580C/T). However, no statistically significant differences were observed in the allele and genotype frequencies of SP-B –18A/C, [i]SP-D[/i] Met11ThrT/C, and [i]SP-D[/i] Ala160ThrG/A. Importantly, serum [i]SP-A[/i] and [i]SP-B[/i] levels were reduced in RDS patients carrying [i]SP-A[/i] (+186A/G, +655C/T) and [i]SP-B [/i](1580C/T) polymorphisms. AA genotype of +186A/G, [i]SP-A[/i] level, and CC genotype of 1580C/T were independently correlated with increased RDS risk. CONCLUSIONS SP-A (+186A/G) and [i]SP-B[/i] (1580C/T) polymorphisms are strongly associated with the risk of RDS in preterm infants. Notably, reduced serum [i]SP-A[/i] levels were correlated with a high risk of RDS and may serve as novel biomarkers for RDS detection and monitoring.