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Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients.
J Clin Lab Anal. 2018 Feb; 32(2)JC

Abstract

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 (EDN1 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.

Authors+Show Affiliations

Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Cairo, Egypt.Department of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28548215

Citation

Khorshied, Mervat M., et al. "Protein Z and Endothelin-1 Genetic Polymorphisms in Pediatric Egyptian Sickle Cell Disease Patients." Journal of Clinical Laboratory Analysis, vol. 32, no. 2, 2018.
Khorshied MM, Mohamed NS, Hamza RS, et al. Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients. J Clin Lab Anal. 2018;32(2).
Khorshied, M. M., Mohamed, N. S., Hamza, R. S., Ali, R. M., & El-Ghamrawy, M. K. (2018). Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients. Journal of Clinical Laboratory Analysis, 32(2). https://doi.org/10.1002/jcla.22264
Khorshied MM, et al. Protein Z and Endothelin-1 Genetic Polymorphisms in Pediatric Egyptian Sickle Cell Disease Patients. J Clin Lab Anal. 2018;32(2) PubMed PMID: 28548215.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Protein Z and Endothelin-1 genetic polymorphisms in pediatric Egyptian sickle cell disease patients. AU - Khorshied,Mervat M, AU - Mohamed,Nohair S, AU - Hamza,Rania S, AU - Ali,Rasha M, AU - El-Ghamrawy,Mona K, Y1 - 2017/05/26/ PY - 2017/03/30/received PY - 2017/04/25/accepted PY - 2017/5/27/pubmed PY - 2018/5/31/medline PY - 2017/5/27/entrez KW - Egypt KW - Endothelin-1 G5665T KW - protein Z G79A KW - rs3024735 KW - rs5370 KW - sickle cell disease JF - Journal of clinical laboratory analysis JO - J. Clin. Lab. Anal. VL - 32 IS - 2 N2 - 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 (EDN1 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. SN - 1098-2825 UR - https://www.unboundmedicine.com/medline/citation/28548215/Protein_Z_and_Endothelin_1_genetic_polymorphisms_in_pediatric_Egyptian_sickle_cell_disease_patients_ L2 - https://doi.org/10.1002/jcla.22264 DB - PRIME DP - Unbound Medicine ER -