Research Article
Volume 7 Issue 8 - 2018
Polymorphism 129 С/Т of Glutamate Cysteine Ligase Catalytic Subunit Gene Could be Associated with Bronchopulmonary Dysplasia Development: Prospective Cohort Pilot Study
Elena B Pavlinova1, Natalya A Geppe2, Irina A Kirshina1*, Olga A Savchenko and Ekaterina I Karpeta1
1Hospital Pediatrics Department, Omsk State Medical University of the Russian Federation Ministry for Public Health, Russian Federation
2Childhood Diseases Department, First Sechenov Moscow State Medical University of the Russian Federation Ministry for Public Health, Moscow, Russian Federation
*Corresponding Author: Irina A Kirshina, Hospital Pediatrics Department, Omsk State Medical University of the Russian Federation Ministry for Public Health, Russian Federation.
Received: July 02, 2018; Published: July 14, 2018
Citation: Elena B Pavlinova., et al. “Polymorphism 129 С/Т of Glutamate Cysteine Ligase Catalytic Subunit Gene Could be Associated with Bronchopulmonary Dysplasia Development: Prospective Cohort Pilot Study”. EC Paediatrics 7.8 (2018): 758-765.
Introduction: Recently, determining some single-nucleotide replacements in the antioxidant enzymes genes is one of the promising trends in the study of bronchopulmonary dysplasia (BPD). The goal of the research is to investigate the genetic polymorphism frequency analysis of glutamate cysteine ligase catalytic subunit (GCLC) enzyme at preterm infants from the BPD development high-risk group to clarify their contribution to the formation and course of the disease. Study design: prospective cohort pilot study.
Materials and Methods: 59 premature newborns with the high risk of BPD development were under observation. The patients to be examined underwent molecular-genetic studying of polymorphic variants of the GCLC gene. The identification of allele variables determined by the localized nucleotide replacements was performed with the allele-specific polymerase chain reaction. 2 cohorts were formed: children with “wild” type of the gene (control group, n = 36) and children who had GCLC mutations (main group, n = 23). All patients received treatment according to protocols for the management of the infant respiratory distress syndrome, regardless of cohort. The diagnosis of BPD was established according to the criteria of Jobe and Bancalary. Statistical processing was performed using the licensed software "Statistica 6.0".
Results: BPD was diagnosed in 21 children of the main group (21/23, 91.3%) and in 19 children of the control group (19/36, 52.7%). BPD developed more frequently in the main group (two-tailed Fisher’s test, p = 0.004), the relative risk was 1.7 (95% confidence interval 1.2; 2.4). The predictive value of features promoting BPD development was significantly higher in preterm infants of the risk group who had heterozygous and homozygous carriership of GCLC gene minor alleles. The presence of the minor allele -129T of GCLC increased the relative chance of the disease developing. In a half (50.0%) of children to have developed BPD had heterozygous genotype 129 СТ GCLC versus 10.5% in patients who did not develop the disease.
Conclusion: The genetic polymorphism of GCLC could be supposed to take pathogenetic part in the BPD development.
Keywords: Bronchopulmonary Dysplasia; GCLC Gene; Genetic Polymorphism
Copyright: © 2018 Irina A Kirshina., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

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