Huizing Maurice J, Cavallaro Giacomo, Moonen Rob M, González-Luis Gema E, Mosca Fabio, Vento Máximo, Villamor Eduardo
1 Department of Pediatrics, Maastricht University Medical Center (MUMC+) , School for Oncology and Developmental Biology (GROW), Maastricht, The Netherlands .
2 Neonatal Intensive Care Unit, Department of Clinical Sciences and Community Health, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano , Milan, Italy .
Antioxid Redox Signal. 2017 Dec 10;27(17):1432-1438. doi: 10.1089/ars.2017.7042. Epub 2017 May 8.
The C242T polymorphism of CYBA (cytochrome B-245 alpha chain), the gene encoding the p22phox subunit of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase, has been linked to several conditions in which oxidative stress plays a pathogenic role. We investigated in a cohort of 451 preterm infants [gestational age (GA) ≤30 weeks] the association of the polymorphism with the risk of developing neonatal respiratory distress syndrome (RDS), retinopathy of prematurity (ROP), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis, patent ductus arteriosus, or intraventricular hemorrhage. We observed a significant association of the TT/CT genotype with RDS [odds ratio (OR) 2.34, 95% confidence interval (95% CI) 1.28-3.90], ROP (OR 1.72, 95% CI 1.05-2.80), and BPD (OR 1.60, 95% CI 1.05-2.43). When this dominant model was adjusted to account for GA, birth weight, and sex, it remained significant for the three outcomes. This study is the first to address the association of a polymorphism related to the NADPH family with oxidative stress-related complications of prematurity. Since p22phox is essential for reactive oxygen species production by NADPH oxidase, we hypothesize that genetic variations in the protein may lead to differences in susceptibility to oxidative stress-induced damage in preterm infants. Antioxid. Redox Signal. 27, 1432-1438.
CYBA(细胞色素B-245α链)的C242T多态性,该基因编码烟酰胺腺嘌呤二核苷酸磷酸(NADPH)氧化酶的p22phox亚基,已与几种氧化应激起致病作用的病症相关联。我们在一组451名早产儿[胎龄(GA)≤30周]中研究了该多态性与发生新生儿呼吸窘迫综合征(RDS)、早产儿视网膜病变(ROP)、支气管肺发育不良(BPD)、坏死性小肠结肠炎、动脉导管未闭或脑室内出血风险的关联。我们观察到TT/CT基因型与RDS[比值比(OR)2.34,95%置信区间(95%CI)1.28 - 3.90]、ROP(OR 1.72,95%CI 1.05 - 2.80)和BPD(OR 1.60,95%CI 1.05 - 2.43)之间存在显著关联。当将此显性模型调整以考虑GA、出生体重和性别时,对于这三种结局仍具有显著性。本研究首次探讨了与NADPH家族相关的多态性与早产相关氧化应激并发症之间的关联。由于p22phox对于NADPH氧化酶产生活性氧至关重要,我们推测该蛋白的基因变异可能导致早产儿对氧化应激诱导损伤的易感性存在差异。《抗氧化与氧化还原信号》27卷,1432 - 1438页。