Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients
- 26 May 2017
- journal article
- research article
- Published by Wiley in Journal of Clinical Laboratory Analysis
- Vol. 32 (2), e22264
- https://doi.org/10.1002/jcla.22264
Abstract
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 (EDN1 G5665T) polymorphisms on the clinic-laboratory features of the SCD in a cohort of Egyptian pediatric patients. 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. 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). 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.Keywords
This publication has 33 references indexed in Scilit:
- Endothelin in Renal Injury due to Sickle Cell DiseaseContributions to nephrology, 2011
- Maternal EDN1 G5665T polymorphism influences circulating endothelin-1 levels and plays a role in determination of preeclampsia phenotypeJournal of Hypertension, 2009
- Low protein Z levels, but not the intron F G79A polymorphism, are associated with unexplained pregnancy lossThrombosis Research, 2009
- Deconstructing sickle cell disease: Reappraisal of the role of hemolysis in the development of clinical subphenotypesBlood Reviews, 2007
- Preeclampsia is associated with low concentrations of protein ZThe Journal of Maternal-Fetal & Neonatal Medicine, 2007
- ET-1 Lys198Asn and ETA Receptor H323H Polymorphisms in Heart FailureCardiology, 2006
- Endothelin-1 Gene Polymorphism in Patients with Malignant ArrhythmiasJournal of Cardiovascular Pharmacology, 2004
- A Common Polymorphism of the Protein Z Gene Is Associated With Protein Z Plasma Levels and With Risk of Cerebral Ischemia in the YoungStroke, 2004
- Preproendothelin-1 Gene Polymorphism Is Related to a Change in Vascular Reactivity in the Human Mammary Artery In VitroHypertension, 2002
- Effects and Interactions of Endothelin-1 and Angiotensin II on Matrix Protein Expression and Synthesis and Mesangial Cell GrowthHypertension, 1996