Is the C242T Polymorphism of the <i>CYBA</i> Gene Linked with Oxidative Stress-Associated Complications of Prematurity?

Huizing, Maurice J.; Cavallaro, Giacomo; Moonen, Rob; González-Luis, Gema E.; Mosca, Fabio; Vento, Máximo; Villamor, Eduardo

doi:10.1089/ars.2017.7042

Cited by 19 publications

(24 citation statements)

References 9 publications

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“…The p22phox subunit, a transmembrane protein encoded by the CYBA gene, is a major component of NOX complexes 15 . The C242T (rs4673) SNP, which is located in exon 4 of the CYBA gene, encodes a CAC → TAC codon change, leading to a nonconservative substitution, His72Tyr 16 . The T allele (72Tyr) may impair the haem‐binding site of the p22phox protein and reduce the stability and activity of NOX complexes 16 .…”

Section: Introductionmentioning

confidence: 99%

“…The C242T (rs4673) SNP, which is located in exon 4 of the CYBA gene, encodes a CAC → TAC codon change, leading to a nonconservative substitution, His72Tyr 16 . The T allele (72Tyr) may impair the haem‐binding site of the p22phox protein and reduce the stability and activity of NOX complexes 16 . This SNP has been reported to be associated with CHD, 17 diabetes and its complications, 18,19 metabolic syndrome, 20 essential hypertension 21 and oxidative stress‐associated complications of prematurity 16 …”

Section: Introductionmentioning

confidence: 99%

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Myeloperoxidase andCYBAgenetic variants in polycystic ovary syndrome

Liu

et al. 2020

Eur J Clin Investigation

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Background Oxidative stress plays a pivotal role in the pathogenesis of polycystic ovary syndrome (PCOS). Genetic variations in myeloperoxidase (MPO; G‐463A) and NADPH oxidase p22phox subunit (CYBA; C242T) cause inter‐individual variability in enzyme activities. Here, we investigated the associations between MPO activity and the MPO G‐463A and CYBA C242T polymorphisms in Chinese women with PCOS. Methods This case‐control study included 1003 patients with PCOS and 810 controls. The G‐463A and C242T polymorphisms were detected by polymerase chain reaction and restriction analysis, and clinical, hormonal, metabolic and oxidative stress parameters and MPO activity were analysed. Results The frequencies of the GA + AA genotype and A allele frequency of the MPO G‐463A polymorphism were significantly higher in the PCOS group than in the control group. Logistic regression analysis showed that the MPO‐463A allele is a risk factor for PCOS (OR = 1.261, 95% CI: 1.042‐1.526, P = .017). Patients with the AA genotype tended to have higher plasma MPO activity than those with the GG genotype. No statistical significance was found in the genotype and allele frequencies of the CYBA C242T polymorphism between the PCOS and control groups. However, we demonstrated that the coexistence of the MPO A allele (GA + AA genotypes) and the CYBA CC genotype was associated with an increased risk of PCOS when compared with the wild‐type GG/CC genotypes (OR = 1.302, 95% CI: 1.030‐1.646, P = .027). Conclusion The MPO G‐463A variant, but not CYBA C242T variant, is associated with a risk of PCOS in Chinese women.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Myeloperoxidase andCYBAgenetic variants in polycystic ovary syndrome

Liu

et al. 2020

Eur J Clin Investigation

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“…In the present study we aimed to confirm the association with NEC of three candidate SNPs: the VEGF C-2578A polymorphism (rs699947) (12,13), the IL-18 C-607A polymorphism (rs1946518) (14), and the IL-4 receptor αchain (IL-4Rα) A-1902G polymorphism (rs1801275) (15). We performed our investigation in a cohort of preterm infants from four neonatal intensive care units located in three different European countries (Spain, Italy, and the Netherlands) (16,17).…”

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confidence: 99%

Risk of Necrotizing Enterocolitis Associated With the Single Nucleotide Polymorphisms VEGF C-2578A, IL-18 C-607A, and IL-4 Receptor α-Chain A-1902G: A Validation Study in a Prospective Multicenter Cohort

et al. 2020

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The etiology of necrotizing enterocolitis (NEC) is multifactorial and an underlying genetic predisposition to NEC is increasingly being recognized. A growing number of studies identified single nucleotide polymorphisms (SNPs) of selected genes with potential biological relevance in the development of NEC. However, few of these genetic studies have been replicated in validation cohorts. We aimed to confirm in a cohort of 358 preterm newborns (gestational age <30 weeks, 26 cases of NEC ≥ Bell stage II) the association with NEC of three candidate SNPs: the vascular endothelium growth factor (VEGF) C-2578A polymorphism (rs699947), the interleukin (IL)-18 C-607A polymorphism (rs1946518), and the IL-4 receptor α-chain (IL-4Rα) A-1902G polymorphism (rs1801275). We observed that allele and genotype frequencies of the three SNPs did not significantly differ between the infants with and without NEC. In contrast, the minor G-allele of the IL-4Rα A-1902G polymorphism was significantly less frequent in the group of 51 infants with the combined outcome NEC or death before 34 weeks postmenstrual age than in the infants without the outcome (0.206 vs. 0.331, P = 0.01). In addition, a significant negative association of the G-allele with the combined outcome NEC or death was found using the dominant (adjusted odds ratio, aOR: 0.44, 95% CI 0.21-0.92), recessive (aOR 0.15, 95% CI 0.03-0.74), and additive (aOR 0.46, 95% CI 0.26-0.80) genetic models. In conclusion our study provides further evidence that a genetic variant of the IL-4Rα gene may contribute to NEC.

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“…An interesting recent study “ in vivo ” in a cohort of 451 preterm infants addresses the association of a polymorphism related to the NADPH family with oxidative stress-related complications of prematurity as BPD, RDS and ROP. This study points out that genetic polymorphism may cause variable clinical response to oxidative stress induced damage in preterm infants (19) and explains that each preterm neonate has a different susceptibility to OS related diseases.…”

Section: Oxidative Stress and Bronchopulmonary Dysplasia: An Overviewmentioning

confidence: 82%

Oxidative Stress and Bronchopulmonary Dysplasia: Evidences From Microbiomics, Metabolomics, and Proteomics

et al. 2019

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Bronchopulmonary dysplasia is a major issue affecting morbidity and mortality of surviving premature babies. Preterm newborns are particularly susceptible to oxidative stress and infants with bronchopulmonary dysplasia have a typical oxidation pattern in the early stages of this disease, suggesting the important role of oxidative stress in its pathogenesis. Bronchopulmonary dysplasia is a complex disease where knowledge advances as new investigative tools become available. The explosion of the “omics” disciplines has recently affected BPD research. This review focuses on the new evidence coming from microbiomics, metabolomics and proteomics in relation to oxidative stress and pathogenesis of bronchopulmonary dysplasia. Since the pathogenesis is not yet completely understood, information gained in this regard would be important for planning an efficacious prevention and treatment strategy for the future.

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Is the C242T Polymorphism of the CYBA Gene Linked with Oxidative Stress-Associated Complications of Prematurity?

Cited by 19 publications

References 9 publications

Myeloperoxidase andCYBAgenetic variants in polycystic ovary syndrome

Myeloperoxidase andCYBAgenetic variants in polycystic ovary syndrome

Risk of Necrotizing Enterocolitis Associated With the Single Nucleotide Polymorphisms VEGF C-2578A, IL-18 C-607A, and IL-4 Receptor α-Chain A-1902G: A Validation Study in a Prospective Multicenter Cohort

Oxidative Stress and Bronchopulmonary Dysplasia: Evidences From Microbiomics, Metabolomics, and Proteomics

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