Abstract
Objective To investigate ABCA3 gene polymorphism and its relationship with neonatal respiratory distress syndrome (NRDS) in the Guangxi Zhuang Autonomous Region of China by genotyping and haplotype analysis. Methods Using a tagging single nucleotide polymorphism (tSNP) strategy and TaqMan (r) real-time PCR, we genotyped 4 tSNPs (rs4787273, rs150929, rs11867129, and rs17135889) and one additional coding SNP (rs13332514) of the ABCA3 gene in preterm infants with NRDS (NRDS group, n=45) and without NRDS (non-NRDS group, n=45) and subsequently predicted the haplotypes. The minor allele frequency and the haplotype `distribution were compared between the two groups. Results The minor allele A (0.14 vs.0.05, P=0.046) and genotype AG (0.289 vs.0.111, P=0.035) frequency of SNP rs17135889 in NRDS group were significantly higher than those in non-NRDS group. Totally 6 haplotypes occurred at a frequency ≥0.01, among which, the haplotype TGGAG, depended on rs17135889, was significantly higher in NRDS group than that in non-NRDS group (0.061 vs.0.000, P=0.014). Conclusion The results suggested that SNP rs17135889 of ABCA3 gene might be related to NRDS in preterm population of the Guangxi Zhuang Autonomous Region. Allele A contributes to NRDS susceptibility in preterm infants. Key words: Neonatal respiratory distress syndrome; ABCA3; Single nucleotide polymorphism
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