Open AccessProtein Z and Endothelin‐1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients
Author(s) -
Khorshied Mervat M.,
Mohamed Nohair S.,
Hamza Rania S.,
Ali Rasha M.,
ElGhamrawy Mona K.
Publication year - 2018
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22264
Subject(s) - medicine , genotyping , acute chest syndrome , pathophysiology , endothelin receptor , gastroenterology , disease , endothelin 1 , pulmonary hypertension , restriction fragment length polymorphism , cohort , polymorphism (computer science) , endothelial dysfunction , immunology , bioinformatics , polymerase chain reaction , genotype , sickle cell anemia , genetics , gene , biology , receptor
Background Sickle cell disease ( SCD ) is a monogenic disease associated with multisystem morbidity. Vasculopathy caused by delicate imbalance between coagulation and endothelial systems plays a pivotal role in disease course. As Protein Z and Endothelin‐1 genetic polymorphisms may increase the thrombotic risk, the aim of the current work was to verify the possible impact of Protein Z ( PROZ G79A) and Endothelin‐1 ( EDN 1 G5665T) polymorphisms on the clinic‐laboratory features of the SCD in a cohort of Egyptian pediatric patients. Methods Genotyping of Protein Z G79A and Endothelin‐1 G5665T was carried out by polymerase chain reaction‐restricted fragment length polymorphism ( PCR ‐ RFLP ) assay for 100 SCD patients and 100 controls. Results Protein ‐Z G79A polymorphism was not associated with vascular complications in the studied SCD patients. Endothelin‐1 G5665T polymorphism was associated with pulmonary dysfunction (pulmonary artery hypertension and acute chest syndrome) and severe vaso‐occlusive crises ( VOC ). Conclusion Endothelin‐1 G5665T polymorphism could be considered as a molecular predictor for pulmonary dysfunction and severe VOC in SCD . Further researches with larger cohorts are recommended to understand the pathophysiology of SCD and to explain the inter‐patients’ variability of disease severity.