与极早产儿动脉导管未闭相关的遗传变异。
Genetic variants associated with patent ductus arteriosus in extremely preterm infants.
机构信息
Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Department of Genetics, University of North Carolina, Chapel Hill, NC, USA.
出版信息
J Perinatol. 2019 Mar;39(3):401-408. doi: 10.1038/s41372-018-0285-6. Epub 2018 Dec 5.
Abstract
OBJECTIVE
Patent ductus arteriosus (PDA) is a commonly observed condition in preterm infants. Prior studies have suggested a role for genetics in determining spontaneous ductal closure. Using samples from a large neonatal cohort we tested the hypothesis that common genetic variations are associated with PDA in extremely preterm infants.
STUDY DESIGN
Preterm infants (n = 1013) enrolled at NICHD Neonatal Research Network sites were phenotyped for PDA. DNA was genotyped for 1634 single nucleotide polymorphisms (SNPs) from candidate genes. Analyses were adjusted for ancestral eigenvalues and significant epidemiologic variables.
RESULTS
SNPs in several genes were associated with the clinical diagnosis of PDA and with surgical ligation in extremely preterm neonates diagnosed with PDA (p < 0.01). None of the associations were significant after correction for multiple comparisons.
CONCLUSION
We identified several common genetic variants associated with PDA. These findings may inform further studies on genetic risk factors for PDA in preterm infants.
摘要
目的
动脉导管未闭（PDA）是早产儿中常见的一种病症。先前的研究表明，遗传因素在决定导管的自然闭合中起作用。本研究利用来自大型新生儿队列的样本，检测了常见遗传变异与极早产儿 PDA 之间是否存在关联的假设。
研究设计
在 NICHD 新生儿研究网络的各个研究点，对患有 PDA 的早产儿（n=1013）进行 PDA 表型分析。对候选基因的 1634 个单核苷酸多态性（SNP）进行 DNA 基因分型。分析结果经过了祖先特征值和显著的流行病学变量的调整。
结果
在患有 PDA 的极早产儿中，几个基因中的 SNP 与 PDA 的临床诊断和手术结扎有关（p<0.01）。经过多次比较的校正后，没有一个关联是显著的。
结论
我们发现了一些与 PDA 相关的常见遗传变异。这些发现可能为进一步研究早产儿 PDA 的遗传风险因素提供信息。
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