Relationship between ABCA3 gene polymorphisms and susceptibility with neonatal respiratory distress syndrome
10.3760/cma.j.issn.1673-4912.2015.03.004
- VernacularTitle:ABCA3基因多态性与新生儿呼吸窘迫综合征易感性的研究
- Author:
Wenjun TIAN
;
Xiuqi CHEN
;
Qiufen WEI
;
Shangying TANG
;
Huijuan QIN
;
Yujun CHEN
- Publication Type:Journal Article
- Keywords:
Neonatal respiratory distress syndrome;
ABCA3;
Single nucleotide polymorphism
- From:
Chinese Pediatric Emergency Medicine
2015;22(3):161-164
- CountryChina
- Language:Chinese
-
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,rs 1 50929,rs 11867129,and rs 17135889) 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.
