%0 Journal Article %A Aggeliki Daraki %A Sophia Zachaki %A Elena Polycarpou %A Christos Costalos %A Stavroula Gavrili %T The association of NQO1 C609T polymorphism and the susceptibility of bronchopulmonary dysplasia in preterm neonates %D 2012 %J European Respiratory Journal %P P4126 %V 40 %N Suppl 56 %X Introduction: The development of bronchopulmonary dysplasia (BPD) involves genetic and environmental factors. Supplemental oxygen can damage the pulmonary epithelium through the generation of reactive oxygen species (ROS). The NAD(P)H:quinone oxidoreductase (NQO1) enzyme is involved in ROS detoxification. The encoding gene is subjected to the inactivating sense polymorphism (C609T). Individuals homozygous for the mutant allele (T/T) completely lack NQO1 activity, whereas heterozygotes (C/T) have low enzyme activity. We conducted a case-control study to investigate the potential role of NQO1 inborn polymorphism in BPD susceptibility.Patients/Methods: The study enrolled 119 Greek premature neonates with gestational age ≤32 weeks; 42 developed BPD (case group) and 77 did not develop BPD (control group). Genomic DNA was extracted from peripheral blood of all neonates. NQO1 genotyping was performed by real-time PCR. The NQO1 gene status was also evaluated in respect to gender.Results: A different distribution of NQO1 genotypes was found between BPD neonates and controls, with a higher frequency of variant genotypes (heterozygotes C/T and homozygotes T/T) in BPD population (50% in BPD vs 28.6% in no BPD neonates, p=0.046). Thus, a significantly higher frequency of the mutant T allele was observed in BPD neonates as compared to controls (0.27 vs 0.17, p=0.058). According to gender, we observed no genotypic differences.Conclusion: The higher incidence of the C/T and T/T variant genotypes among neonates who developed BPD suggests that the NQO1 C609T inborn polymorphism probably constitutes an early biomarker of BPD development. %U https://erj.ersjournals.com/content/erj/40/Suppl_56/P4126.full.pdf