Association Of Endothelial Nitric Oxide Synthase (Enos) Gene Polymorphism With Complications Of Hbss In Ghanaian Sickle Cell Disease Patients

ABSTRACT Background Nitric oxide (NO) is a potent vasodilator synthesized by endothelial nitric oxide synthase (eNOS) enzyme of the vascular endothelial cells and plays a significant role in the regulation of vascular homeostasis by attenuating leukocyte adhesion to the endothelium. Nitric oxide levels are found to be low in Sickle cell disease (SCD) patients. The eNOS gene polymorphism has been implicated. Moreover, very scanty data with conflicting findings exist in theliterature on the association between eNOS gene polymorphism and SCD; there is no data on this association between SCD complications such as vasoocclusive crisis (VOC), leg ulcers and Priapism in Ghana. Aim The aim of this study was to determine the association between eNOS gene polymorphism, endothelial dysfunction, angiogenesis and the complications of HbSS in Ghanaian SCD patients. Methodology This was a case control study involving 694 subjects, haematological analyses was done for all the subjects. In addition to haematological analysis, vascular cell adhesion molecule-1 (VCAM-1), intercellular adhesion molecule-1 (ICAM-1), E-selectin, Angiopoietin-1 (Ang-1), angiopoietin-2 (Ang-2), Vascular endothelial growth factor (VEGF), NO and genotyping were determined for 213 subjects which included 153 SCD patients with 135 HbSS (46 steady state, 57 VOC, 21 leg ulcers, 11 priapism) and 18 HbSC patients in VOC and 60 age -matched healthy controls (HbAA) who were voluntary blood donors recruited from the Center for Clinical Genetics and Accra Area