Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.
BACKGROUND
Previous reports indicated that mutations in the adenosine triphosphate (ATP)-binding cassette transporter A3 (ABCA3) cause fatal respiratory failure in term infants, and common ABCA3 gene polymorphisms have been 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 a Chinese population. The aim of this study was to analyze eight single-nucleotide polymorphisms (SNPs) of the ABCA3 gene, and to assess the ABCA3 gene as a candidate gene for susceptibility to RDS in newborns.


METHODS
Eight SNPs were selected and genotyped in 203 newborns. The data analysis and statistical tests were used for allele frequencies, haplotype and Hardy-Weinberg equilibrium pairwise linkage disequilibrium measures.


RESULTS
There was a haplotype association with SNP rs313909 and SNP rs170447, but no haplotype association was observed among the newborns with and without RDS (P > 0.05). The minor allele frequency (G) of the coding SNP (cSNP) rs323043 (P585P) was significantly increased in preterm infants with RDS.


CONCLUSIONS
There is an association between a synonymous cSNP rs323043 and the development of RDS.
Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China.
Lin
L
Jiang
Yi-Dong
YD
Wu
Xue-Feng
XF
Xu
Li-Zhong
LZ
DU
D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012127:Respiratory Distress Syndrome, Newborn / Q000235:genetics*
C441524:ABCA3 protein, human; D018528:ATP-Binding Cassette Transporters