ABCA3 基因多态性分析：与早产儿新生儿呼吸窘迫综合征的相关性。
Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.
机构信息
Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China.
出版信息
Chin Med J (Engl). 2012 May;125(9):1594-8.
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.
CONCLUSION
There is an association between a synonymous cSNP rs323043 and the development of RDS.
背景
先前的报告表明，三磷酸腺苷（ATP）结合盒转运体 A3（ABCA3）中的突变会导致足月婴儿致命性呼吸衰竭，并且在白种人群体中已经对常见的 ABCA3 基因多态性进行了特征描述。但是，ABCA3 与新生儿呼吸窘迫综合征（RDS）之间的关系尚未在中国人群中进行评估。本研究旨在分析 ABCA3 基因的 8 个单核苷酸多态性（SNP），并评估 ABCA3 基因作为新生儿 RDS 易感性的候选基因。
方法
选择并在 203 名新生儿中对 8 个 SNP 进行了基因分型。对数据进行了分析和统计检验，以评估等位基因频率、单体型和 Hardy-Weinberg 平衡连锁不平衡指标。
结果
SNP rs313909 和 SNP rs170447 之间存在单体型关联，但 RDS 新生儿与无 RDS 新生儿之间没有单体型关联（P>0.05）。编码 SNP（cSNP）rs323043（P585P）的次要等位基因频率（G）在患有 RDS 的早产儿中显著增加。
结论
同义 cSNP rs323043 与 RDS 的发生有关。
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