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Genetic polymorphisms of antioxidant enzymes in preterm infants

Chiara Poggi1, Betti Giusti, Anna Vestri

  • 1Department of Medical and Surgical Critical Care, Neonatology Section, Careggi University Hospital, Florence, Italy. chiarapoggi@inwind.it

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|September 11, 2012
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in antioxidant genes like superoxide dismutase (SOD) and catalase (CAT) may predict preterm infant morbidities. Certain SOD and CAT gene variants are linked to reduced risks of respiratory distress syndrome, intraventricular hemorrhage, and retinopathy of prematurity.

Area of Science:

  • Neonatal medicine
  • Genetics
  • Oxidative stress research

Background:

  • Oxidative stress (OS) is implicated in major preterm birth complications including respiratory distress syndrome (RDS), bronchopulmonary dysplasia (BPD), retinopathy of prematurity (ROP), and intraventricular hemorrhage (IVH).
  • Growing evidence suggests a link between single nucleotide polymorphisms (SNPs) in antioxidant response genes and neonatal morbidities.

Purpose of the Study:

  • To investigate the correlation between SNPs in superoxide dismutase (SOD) and catalase (CAT) genes and the incidence of RDS, BPD, IVH, and ROP in preterm neonates.
  • To identify specific genetic markers that may predict the risk of these complications.

Main Methods:

  • Retrospective study design.
  • Inclusion of neonates with gestational age less than 28 weeks.
  • Analysis of single nucleotide polymorphisms (SNPs) and haplotype reconstruction in SOD and CAT genes.

Main Results:

  • The rs8192287 SOD3 polymorphism was identified as an independent protective factor against IVH.
  • Specific SOD2 polymorphisms (rs4880, rs5746136) were associated with lower gestational age and birth weight.
  • Haplotype analysis revealed that certain SOD1, SOD2, SOD3, and CAT gene variants were associated with decreased or increased risks of RDS, BPD, IVH, and ROP.

Conclusions:

  • SNPs and haplotype reconstruction in genes related to oxidative stress and antioxidant activity can aid in identifying preterm infants at high risk for specific morbidities.
  • This genetic information may facilitate the development of targeted prevention strategies for preterm neonates.
Abstract

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