title: GSTP1 and CYP2B6 Genetic Polymorphisms and the Risk of Bronchopulmonary Dysplasia in Preterm Neonates.
abstract: ObjectivesAntioxidant response plays a key role in bronchopulmonary dysplasia (BPD) pathogenesis. The glutathione-S-tranferases pi 1 (GSTP1) and cytochrome P450 (CYP) detoxification enzymes protect cells from oxidative damage. The aim of the study was to investigate whether the A313G GSTP1 and G516T CYP2B6 inactivating polymorphisms could be associated with BPD susceptibility.Study DesignTo test this hypothesis, we conducted a case-control study enrolled 138 premature neonates ≤32 weeks of gestational age; of the 138, 46 developed BPD and 92 did not develop BPD. Genomic deoxyribonucleic acid was extracted from neonates' peripheral blood and was used as template for GSTP1 and CYP2B6 genotyping using the real-time polymerase chain reaction method.ResultsOur report provides evidence for a possible pathogenetic role of the G516T CYP2B6 polymorphism in BPD susceptibility. Although no differences in the frequencies of the GSTP1 variant genotypes were noticed between premature neonates who developed BPD and neonates who did not develop BPD, a significantly higher frequency of the GSTP1 polymorphism was observed in extremely low birth weight infants. Despite the small sample size, it is very interesting the fact that all neonates ≤1,000 g carrying the homozygous mutant GSTP1 genotype developed BPD.ConclusionOur results underscore the significance of both CYP2B6 and GSTP1 polymorphisms in modulating the risk of BPD.
authors.affiliation: Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics and Research, Athens, Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Zachaki
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center for Scientific Research "Demokritos," Athens, Greece.
authors.forename: Aggeliki
authors.initials: A
authors.lastname: Daraki
authors.affiliation: Neonatal Intensive 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 for Scientific Research "Demokritos," Athens, Greece.
authors.forename: Chrysa
authors.initials: C
authors.lastname: Stavropoulou
authors.affiliation: Laboratory of Health Physics, Radiobiology and Cytogenetics, National Center for Scientific Research "Demokritos," Athens, Greece.
authors.forename: Kalliopi N
authors.initials: KN
authors.lastname: Manola
authors.affiliation: Neonatal Intensive Unit, General District Hospital Athens "Alexandra," Athens, Greece.
authors.forename: Stavroula
authors.initials: S
authors.lastname: Gavrili
mesh_terms: D001997:Bronchopulmonary Dysplasia / Q000235:genetics*; D016022:Case-Control Studies; D065702:Cytochrome P-450 CYP2B6 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005865:Gestational Age; D051549:Glutathione S-Transferase pi / Q000235:genetics*; D006115:Greece; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D019102:Infant, Very Low Birth Weight; D008297:Male; D018384:Oxidative Stress / Q000235:genetics; D020641:Polymorphism, Single Nucleotide
chemical_list: C585599:CYP2B6 protein, human; D065702:Cytochrome P-450 CYP2B6; C496556:GSTP1 protein, human; D051549:Glutathione S-Transferase pi