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Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants

Venkatesh Sampath1, Jeffery S Garland2, Daniel Helbling1

  • 1Department of Pediatrics, Medical College of Wisconsin, and Children's Research Institute, Children's Hospital and Health Systems, Milwaukee, Wisconsin.

Pediatric Research
|December 18, 2014
PubMed

Insights

Genetic variants in antioxidant response elements (ARE) may influence bronchopulmonary dysplasia (BPD) risk in premature infants. Specific NQO1 and NFE2L2 gene variants were linked to BPD development and severity.

Area of Science:

  • Genetics
  • Neonatal Medicine
  • Oxidative Stress Biology

Background:

  • Oxidative stress-induced lung injury is a key factor in bronchopulmonary dysplasia (BPD) pathogenesis.
  • The NFE2L2-ARE pathway regulates cellular defense against oxidative stress.
  • Genetic variations in ARE-containing genes may affect infant susceptibility to BPD.

Purpose of the Study:

  • To investigate the association between genetic variants in ARE-related genes and the risk/severity of BPD in very-low-birth-weight (VLBW) infants.
  • To determine if specific single nucleotide polymorphisms (SNPs) in genes like NFE2L2, NQO1, and others influence BPD outcomes.

Main Methods:

  • Genotyping of variants in SOD2, NFE2L2, GCLC, GSTP1, HMOX1, and NQO1 genes in VLBW infants.
  • Utilized TaqMan probes for SNP genotyping and analyzed data with ABI HT7900.
  • Employed genetic dominance and recessive models to assess SNP associations with BPD.

Main Results:

  • A hypomorphic NQO1 SNP (rs1800566) in homozygous state was linked to increased BPD incidence.
  • An NFE2L2 SNP (rs6721961) was associated with reduced severe BPD in the entire cohort and Caucasian infants.
  • Adjusted regression models confirmed associations between NQO1 SNPs and BPD, and NFE2L2 SNPs and severe BPD.

Conclusions:

  • Genetic variants within the NFE2L2-ARE pathway may contribute to BPD susceptibility variability in preterm infants.
  • These findings suggest a potential genetic component influencing BPD development.
  • Further validation in independent cohorts is necessary to confirm these associations.
Abstract

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