The Relation between Endothelial Monocyte-activating Polypeptide II and Polymorphism of Endothelin-1 Gene (G8002A) and Their Effect on Renal Function in Adolescent Patients with Beta-thalassemia Major
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Iron overload, chronic anemia in addition to particular chelators of iron are considered the key factors in kidney impairment pathogenesis in beta-thalassemia major (β-TM). “Endothelin-1 (ET-1) is a very potent endogenous vasoconstrictor” that plays as a stimulator for reactive oxygen species production. “Endothelial monocyte-activating polypeptide-II (EMAP-II) is a multifunctional polypeptide, a pro-inflammatory cytokine with anti-angiogenic properties.” The aim of this study is the assessment of “ET-1 gene polymorphism (G8002A) in adolescents with β-TM as a probable genetic marker for vascular renal dysfunction and its potential connection to EMAP II.” PATIENTS AND METHODS: β-TM patients ( n = 60) with no symptoms of renal disease were studied in comparison to 60 healthy controls. Serum EMAP-II, serum ferritin, hemolysis markers, and urinary albumin-to-creatinine ratio were measured. ET-1 gene polymorphism (G8002A) was evaluated by the polymerase chain reaction-restriction fragment length polymorphism. RESULTS: EMAP II was higher in a significant value in β-TM patients in comparison to nonthalassemic group. “EMAP II was higher significantly in nephropathic patients.” A significant correlation was found between EMAP II and both delayed puberty and positive family history of anemia.” In β-TM, AA variant of the polymorphism of ET-1 gene (G8002A) was found of greater value than that found in controls.” “Patients with nephropathy were significantly higher among AA genotype in comparison to GG and GA genotypes.” Serum ferritin and “EMAP II were high significantly in AA genotype.” CONCLUSION: EMAP-II and ET-1 gene polymorphism (G8002A) may serve as the potential indicators for predicting β-TM patients with high susceptibility to kidney problems.
Source: Journal of Applied Hematology
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4408979155