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早产儿抗氧化酶的基因多态性

Genetic polymorphisms of antioxidant enzymes in preterm infants.

作者信息

Poggi Chiara, Giusti Betti, Vestri Anna, Pasquini Elisabetta, Abbate Rosanna, Dani Carlo

机构信息

Department of Medical and Surgical Critical Care, Neonatology Section, Careggi University Hospital, Florence, Italy.

出版信息

J Matern Fetal Neonatal Med. 2012 Oct;25 Suppl 4:131-4. doi: 10.3109/14767058.2012.714976.

Abstract

BACKGROUND

Oxidative stress (OS) is significantly involved in the development of several complications associated with preterm birth, such as respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP) and intraventricular hemorrhage (IVH). Evidence is growing about the associations between single nucleotide polymorphisms (SNPs) in genes involved in OS or antioxidant response and the occurrence of neonatal morbidities.

AIM OF THE STUDY

To assess whether SNPs in genes of superoxide dismutase (SOD) and catalase (CAT), involved in antioxidant pathways, correlate with the occurrence of RDS, BPD, IVH and ROP in preterm neonates.

METHODS

We performed a retrospective study involving neonates <28 weeks of gestational age.

RESULTS

We demonstrated that rs8192287 SOD3 polymorphism is an independent protective factor for IVH, while rs4880 and rs5746136 SOD2 polymorphisms are associated with lower gestational age and birth weight. Haplotypes reconstruction showed that SOD1 (GG) decreased the risk of RDS, IVH and ROP; SOD2 (GT) increased the risk of BPD and decreased the risk of RDS, IVH, and ROP; SOD3 (TGC) decreased the risk of BPD and IVH; and CAT (CTC) decreased the risk of RDS.

CONCLUSIONS

The study of SNPs or haplotypes reconstruction in genes involved in OS or scavenging activity may be helpful in identifying preterm newborns with a particularly high risk of morbidities, who may benefit from specific prevention strategies.

摘要

背景

氧化应激(OS)在早产相关的几种并发症的发生发展中起重要作用,如呼吸窘迫综合征(RDS)、支气管肺发育不良(BPD)、早产儿视网膜病变(ROP)和脑室内出血(IVH)。越来越多的证据表明,参与OS或抗氧化反应的基因中的单核苷酸多态性(SNP)与新生儿疾病的发生有关。

研究目的

评估参与抗氧化途径的超氧化物歧化酶(SOD)和过氧化氢酶(CAT)基因中的SNP是否与早产新生儿RDS、BPD、IVH和ROP的发生相关。

方法

我们进行了一项回顾性研究,纳入孕周小于28周的新生儿。

结果

我们证明rs8192287 SOD3多态性是IVH的独立保护因素,而rs4880和rs5746136 SOD2多态性与较低的孕周和出生体重相关。单倍型重建显示,SOD1(GG)降低了RDS、IVH和ROP的风险;SOD2(GT)增加了BPD的风险,降低了RDS、IVH和ROP的风险;SOD3(TGC)降低了BPD和IVH的风险;CAT(CTC)降低了RDS的风险。

结论

对参与OS或清除活性的基因中的SNP或单倍型重建进行研究,可能有助于识别具有特别高疾病风险的早产新生儿,他们可能从特定的预防策略中受益。

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