ABCA3 Gene Polymorphisms And Susceptibility With Neonatal Respiratory Distress Syndrome

Objective Research and analysis ABCA3 gene polymorphism and its relationship with neonatal respiratory distress syndrome (RDS) in the Guangxi Zhuang Autonomous Region of China by genotyping and haplotype analysis.Methods Eighty-three neonatal respiratory distress syndrome cases were collected form five hospitals in Guangxi Zhuang Autonomous Region (the First Affiliated Hospital of Guangxi Medical University, the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous region, maternal and Child Health Hospital of Nanning, the Eighth Affiliated Hospital of Guangxi Medical University, the maternal and Child Health Hospital of Qinzhou),And eighty-three without RDS were recruited as control group. Genomic DNA was extracted from the whole blood samples for 1.5ml. Using tagging SNPs (tSNP) strategy and TaqMan(?) real time PCR (RT-PCR), we genotyped 4 tSNPs (rs150929, rs4787273,rs11867129, rs17135889) and one additional coding SNPs (cSNPs), p.F353F, of ABCA3 gene in preterm infants with RDS (n=83) and without RDS (n=83), and then predicted haplotypes and compared the minor allele frequency and haplotype distribution between infants with RDS and without RDS. We accessed whether polymorphisms was associated with unique RDS characteristics by linking clinical information to genotype.Results The minor allele (A) frequency of SNP rs17135889, located in the transcription factor binding site (TFBS) of ABCA3, was significantly higher in infants with RDS (0.19 VS 0.1, P＜0.05). Totally 7 haplotypes occurred at a frequency≥0.01, among which, the haplotype TGGAG, depended on rs17135889, was significantly higher in infants with RDS than that in infants without RDS (P=0.026,95%C1 (1.088-10.685), OR3.41).We did not find significant correlation between rs17135889 genotypes (AG/GG) and clinical characteristics, including oxygen-supplement duration, individuals of ventilation needing, complication of BPD, hospitalized duration and the mortality rate.Conclusion The results suggested an association of SNP rs17135889, in the TFBS of ABCA3 gene with increased risk for RDS for preterm infants in this local Chinese population.