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内皮型一氧化氮合酶基因 Glu298Asp 多态性与呼吸窘迫综合征早产儿。

Endothelial NOS gene Glu298Asp polymorphism in preterm neonates with respiratory distress syndrome.

机构信息

Faculty of Medicine, Division of Neonatology, Department of Pediatrics, University of Gaziantep, Gaziantep, Turkey.

出版信息

Pediatr Pulmonol. 2013 Oct;48(10):976-80. doi: 10.1002/ppul.22759. Epub 2013 Jan 28.

DOI:10.1002/ppul.22759
PMID:23359565
Abstract

RATIONALE

Respiratory Distress Syndrome (RDS) due to prematurity is one of the most important causes of morbidity and mortality in Neonatal Intensive Care Units. According to few studies in recent years, endothelial nitric oxide synthase (eNOS) gene polymorphisms are found to be partially responsible for liability to RDS. The purpose of this study was to determine the association between eNOS gene polymorphism and RDS in preterm neonates.

PATIENTS AND METHODS

The patient group consisted of 152 premature neonates born before 37 weeks of gestation and diagnosed as RDS. The control group consisted of 125 premature neonates born before 37 weeks of gestation, but was not diagnosed as RDS. Genomic DNA from patients and controls was analyzed by polymerase chain reaction.

RESULTS

It was found that Glu/Glu, Glu/Asp, and Asp/Asp genotype frequencies of the eNOS gene polymorphism were 35.2%, 59.2%, and 5.6% of the control group, and 32.9%, 65.1%, and 2.0% of the patient group, respectively (P > 0.05). However, significant increases in Glu/Glu genotype and Glu allele frequencies were noted in the RDS groups when the preterm neonates were divided into two groups (24-30 weeks and 31-36 weeks) by gestational age. Additionally, Glu/Asp genotype and Asp allele were markedly less frequent among the RDS groups (P < 0.05). Asp allele frequency in boys and Glu allele frequency in girls were significantly high in RDS group (P < 0.05).

CONCLUSIONS

These data suggest that there were significant gestational age-related differences between RDS and control groups in terms of Glu298Asp polymorphism. Therefore, RDS seems to develop with alterations in eNOS Glu298Asp genotype frequencies in the Turkish population.

摘要

背景

早产儿呼吸窘迫综合征(RDS)是新生儿重症监护病房发病和死亡的重要原因之一。根据近年来的一些研究,内皮型一氧化氮合酶(eNOS)基因多态性部分与 RDS 的易感性有关。本研究旨在确定 eNOS 基因多态性与早产儿 RDS 的关系。

方法

患者组为 152 例胎龄<37 周、诊断为 RDS 的早产儿,对照组为胎龄<37 周、未诊断为 RDS 的早产儿。采用聚合酶链反应分析患者和对照组的基因组 DNA。

结果

对照组 eNOS 基因 Glu/Glu、Glu/Asp 和 Asp/Asp 基因型频率分别为 35.2%、59.2%和 5.6%,患者组分别为 32.9%、65.1%和 2.0%(P>0.05)。但按胎龄分为 24-30 周和 31-36 周两组时,RDS 组 Glu/Glu 基因型和 Glu 等位基因频率显著升高(P<0.05)。RDS 组 Glu/Asp 基因型和 Asp 等位基因明显减少(P<0.05)。男孩的 Asp 等位基因频率和女孩的 Glu 等位基因频率在 RDS 组中显著升高(P<0.05)。

结论

这些数据表明,在 Glu298Asp 多态性方面,RDS 组与对照组之间存在显著的与胎龄相关的差异。因此,在土耳其人群中,eNOS Glu298Asp 基因型频率的改变可能与 RDS 的发生有关。

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