Polymorphism Analysis Of ABCA3 Gene: Association With Neonatal Respiratory Distress Syndrome In Preterm Infants

Background.Neonatal respiratory distress syndrome(ABCA3) is known as Hyaline membrane disease(HMD).Insufficiency of surfactant in neonates causes respiratory distress syndrome.Previous reports indicate that the mutations in Adenosine triphosphate(ATP)-binding cassette transporter A3(ABCA3) cause fatal respiratory failure in term infants,and common ABCA3 gene polymorphisms have characterized at the population level in Caucasians.But the role of ABCA3 in relation to respiratory distress syndrome(RDS) in newborns has not been evaluated within Chinese population.Aim.To analyze eight single-nucleotide polymorphisms(SNPs) for ABCA3 gene,and to assess ABCA3 as a candidate gene for susceptibility to RDS in newborns.Methods.We obtained DNA and clinical data from newborns with RDS and from newborns without RDS as a control group(CON).Eight SNPs were selected and genotyped in 203 newborns.The data analysis and statistical tests are used for allele frequencies,haplotype,Hardy-Weinberg equilibrium and pairwise linkage disequilibrium measures.Results.The minor allele frequency(G) of SNP rs323043(P585P) was significantly higher in preterm infants with RDS,but no haplotypic association is observed among the preterm infants and the term infants.And there is no obvious correlation between the rs323043 genotype(CG) with the complications and the severity of illness.Conclusions.The results suggest an association between a synonymous SNP rs323043 and increase RDS susceptibility in preterm infants.ABCA3 is an important candidate gene for contributing to RDS.