Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants

Verfasser / Beitragende:
DU Li-zhong; XU Xue-feng; JIANG Lin; WU Yi-dong
Ort, Verlag, Jahr:
Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003,China, 2012
Zeitschriftentitel:
Chinese medical journal, Jg. 125; H. 9; S. 1594 - 1598
Format:
Journal Article
Online Zugang:
ID: FETCH-wanfang_journals_zhcmj2012090133

R-0; 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

Chinese medical journal

respiratory distress syndrome; minor allele frequency; adenosine triphosphate-binding cassette transporter A3; single-nucleotide polymorphisms