GSTP1 and CYP2B6 Genetic Polymorphisms and the Risk of Bronchopulmonary Dysplasia in Preterm Neonates. 2017

Sophia Zachaki, and Aggeliki Daraki, and Elena Polycarpou, and Chrysa Stavropoulou, and Kalliopi N Manola, and Stavroula Gavrili
Genesis Genoma Lab, Genetic Diagnosis, Clinical Genetics and Research, Athens, Greece.

Objectives Antioxidant 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 Design To 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. Results Our 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. Conclusion Our results underscore the significance of both CYP2B6 and GSTP1 polymorphisms in modulating the risk of BPD.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D007234 Infant, Premature A human infant born before 37 weeks of GESTATION. Neonatal Prematurity,Premature Infants,Preterm Infants,Infant, Preterm,Infants, Premature,Infants, Preterm,Premature Infant,Prematurity, Neonatal,Preterm Infant
D008297 Male Males
D001997 Bronchopulmonary Dysplasia A chronic lung disease developed after OXYGEN INHALATION THERAPY or mechanical ventilation (VENTILATION, MECHANICAL) usually occurring in certain premature infants (INFANT, PREMATURE) or newborn infants with respiratory distress syndrome (RESPIRATORY DISTRESS SYNDROME, NEWBORN). Histologically, it is characterized by the unusual abnormalities of the bronchioles, such as METAPLASIA, decrease in alveolar number, and formation of CYSTS. Dysplasia, Bronchopulmonary
D005260 Female Females
D005865 Gestational Age The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated from the onset of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization. It is also estimated to begin from fertilization, estrus, coitus, or artificial insemination. Embryologic Age,Fetal Maturity, Chronologic,Chronologic Fetal Maturity,Fetal Age,Maturity, Chronologic Fetal,Age, Embryologic,Age, Fetal,Age, Gestational,Ages, Embryologic,Ages, Fetal,Ages, Gestational,Embryologic Ages,Fetal Ages,Gestational Ages
D006115 Greece A country in southern Europe, bordering the Aegean Sea, Ionian Sea, and the Mediterranean Sea, between Albania and Turkey. The capital is Athens. Crete,Macedonia (Greece)
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D016022 Case-Control Studies Comparisons that start with the identification of persons with the disease or outcome of interest and a control (comparison, referent) group without the disease or outcome of interest. The relationship of an attribute is examined by comparing both groups with regard to the frequency or levels of outcome over time. Case-Base Studies,Case-Comparison Studies,Case-Referent Studies,Matched Case-Control Studies,Nested Case-Control Studies,Case Control Studies,Case-Compeer Studies,Case-Referrent Studies,Case Base Studies,Case Comparison Studies,Case Control Study,Case Referent Studies,Case Referrent Studies,Case-Comparison Study,Case-Control Studies, Matched,Case-Control Studies, Nested,Case-Control Study,Case-Control Study, Matched,Case-Control Study, Nested,Case-Referent Study,Case-Referrent Study,Matched Case Control Studies,Matched Case-Control Study,Nested Case Control Studies,Nested Case-Control Study,Studies, Case Control,Studies, Case-Base,Studies, Case-Comparison,Studies, Case-Compeer,Studies, Case-Control,Studies, Case-Referent,Studies, Case-Referrent,Studies, Matched Case-Control,Studies, Nested Case-Control,Study, Case Control,Study, Case-Comparison,Study, Case-Control,Study, Case-Referent,Study, Case-Referrent,Study, Matched Case-Control,Study, Nested Case-Control
D051549 Glutathione S-Transferase pi A glutathione transferase that catalyzes the conjugation of electrophilic substrates to GLUTATHIONE. This enzyme has been shown to provide cellular protection against redox-mediated damage by FREE RADICALS. GST Class-phi,GSTP1 Glutathione D-Transferase,Glutathione Transferase P1-1,Class-phi, GST,D-Transferase, GSTP1 Glutathione,GST Class phi,GSTP1 Glutathione D Transferase,Glutathione D-Transferase, GSTP1,Glutathione S Transferase pi,Glutathione Transferase P1 1,Transferase P1-1, Glutathione

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