Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1594-1598, 2012.
Article
in English
| WPRIM
| ID: wpr-324930
ABSTRACT
<p><b>BACKGROUND</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>There is an association between a synonymous cSNP rs323043 and the development of RDS.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Respiratory Distress Syndrome, Newborn
/
Haplotypes
/
Polymerase Chain Reaction
/
ATP-Binding Cassette Transporters
/
Polymorphism, Single Nucleotide
/
Gene Frequency
/
Genetics
/
Genotype
Limits:
Female
/
Humans
/
Male
/
Infant, Newborn
Language:
English
Journal:
Chinese Medical Journal
Year:
2012
Type:
Article
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