title: Association of C609T-Inborn Polymorphism of NAD(P)H: Quinone Oxidoreductase 1 with the Risk of Bronchopulmonary Dysplasia in Preterm Neonates.
abstract: Objectives In bronchopulmonary dysplasia (BPD), direct exposure to oxygen therapy can damage the pulmonary epithelium via oxidative stress. The
  
  
  
  quinone oxidoreductase 1 (NQO1) enzyme detoxifies genotoxic products of oxidative stress. The corresponding gene is subject to an inactivating single-nucleotide polymorphism (C(609)T), which reduces detoxifying ability. The aim of this study was to investigate whether the C(609)T NQO1 inborn gene polymorphism is associated with an increased risk of BPD. Study Design Peripheral blood samples from 119 premature neonates ≤ 32 weeks of gestational age (42 BPD and 77 non-BPD) were used for DNA extraction. NQO1 genotyping was performed using the polymerase chain reaction-restriction fragment length polymorphism method. Results A significantly higher frequency of the NQO1 polymorphism was observed in BPD neonates compared with neonates without BPD. All neonates with ≤ 1,000 g birth weight who carried the mutant allele in heterozygous or homozygous state developed BPD. None of the BPD nonaffected group neonates with ≤ 1,000 g birth weight carried the NQO1 polymorphism. Conclusion The higher incidence of NQO1 mutants among BPD neonates as well as the presence of the mutant allele in all neonates with ≤ 1,000 g who developed BPD provided the first evidence for a possible pathogenetic role of the C(609)T polymorphism in BPD susceptibility due to the reduction or loss of NQO1 enzymatic activity.
authors.affiliation: Neonatal Intensive Care Unit, General District Hospital Athens "Alexandra," Athens, Greece.
authors.forename: Stavroula
authors.initials: S
authors.lastname: Gavrili
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center of Scientific Research (NCSR) "Demokritos," Athens, Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Zachaki
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center of Scientific Research (NCSR) "Demokritos," Athens, Greece.
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Daraki
authors.affiliation: Neonatal Intensive Care Unit, General District Hospital Athens "Alexandra," Athens, Greece.
authors.forename: Elena
authors.initials: E
authors.lastname: Polycarpou
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center of Scientific Research (NCSR) "Demokritos," Athens, Greece.
authors.forename: Kalliopi
authors.initials: K
authors.lastname: Manola
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center of Scientific Research (NCSR) "Demokritos," Athens, Greece.
authors.forename: Chryssa
authors.initials: C
authors.lastname: Stavropoulou
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center of Scientific Research (NCSR) "Demokritos," Athens, Greece.
authors.forename: Constantina
authors.initials: C
authors.lastname: Sambani
authors.affiliation: Neonatal Intensive Care Unit, General District Hospital Athens "Alexandra," Athens, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Baroutis
mesh_terms: D000483:Alleles; D001997:Bronchopulmonary Dysplasia / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006115:Greece; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D016015:Logistic Models; D008297:Male; D016660:NAD(P)H Dehydrogenase (Quinone) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide
chemical_list: D016660:NAD(P)H Dehydrogenase (Quinone); C447479:NQO1 protein, human