Endothelin-1 gene polymorphism (G8002A) and endothelial monocyte-activating polypeptide II: Role in vascular dysfunction in pediatric patients with β-thalassemia major.

Autor: Tantawy AAG; Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Tadros MAR; Pediatric Department, Military Medical Services and Military Medical Academy, Cairo, Egypt., Adly AAM; Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt. Electronic address: amiradiabetes@yahoo.com., Ismail EAR; Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Ibrahim FA; Biochemistry Department, National Research Center, Cairo, Egypt., Salah Eldin NM; Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Hussein MM; Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Alfeky MA; Clinical Pathology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt., Ibrahim SM; Pediatric Department, Military Medical Services and Military Medical Academy, Cairo, Egypt., Hashem MA; Pediatric Department, Military Medical Services and Military Medical Academy, Cairo, Egypt., Ebeid FSE; Pediatric Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Jazyk: angličtina
Zdroj: Cytokine [Cytokine] 2023 Jan; Vol. 161, pp. 156048. Date of Electronic Publication: 2022 Oct 21.
DOI: 10.1016/j.cyto.2022.156048
Abstrakt: Background: Endothelin-1 (ET-1), a potent endogenous vasoconstrictor, stimulates production of reactive oxygen species. Endothelial monocyte-activating polypeptide-II (EMAP-II) is a multifunctional polypeptide.
Aim: To assess ET-1 gene polymorphism (G8002A) in pediatric patients with β-thalassemia major (β-TM) as a potential genetic marker for vascular dysfunction and its possible relation to EMAP II, oxidative stress and vascular complications.
Methods: β-TM patients (n = 95) without symptomatic cardiac or renal disease were compared with 95 healthy controls. Markers of hemolysis, serum ferritin, urinary albumin-to-creatinine ratio, serum EMAP II, malondialdehyde (MDA) and antioxidant enzymes; superoxide dismutase (SOD), glutathione peroxidase (GPx), reduced glutathione (GSH), glutathione reductase and catalase were measured. ET-1 gene polymorphism (G8002A) was determined using polymerase chain reaction‑restriction fragment length polymorphism.
Results: β-TM patients had significantly higher EMAP II than healthy controls. EMAP II was significantly higher among patients with cardiac disease, pulmonary hypertension (PH) risk, nephropathy, poor compliance to therapy and ferritin ≥ 2500 μg/L. There were significant correlations between EMAP II and transfusion index, LDH, ferritin and oxidative stress markers. The AA genotype of ET-1 gene polymorphism (G8002A) was significantly higher among β-TM patients than controls. The number of patients with cardiac disease, PH risk or nephropathy was significantly higher among AA genotype compared with GG and GA genotypes. Lactate dehydrogenase (LDH), serum ferritin, EMAP II, MDA, SOD and GPx were significantly higher in AA genotype.
Conclusion: ET-1 gene polymorphism (G8002A) could be a possible genetic marker for prediction of increased susceptibility to cardiopulmonary and renal complications among pediatric patients with β-TM.
Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2022 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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