Association of Vascular Endothelial Growth Factor gene Polymorphism 2578C/A with Vaso-occlusive Crisis in sickle disease

Objectives : To investigate the contribution of vascular endothelial growth factor (VEGF) variants 2578 C/A (rs699947) to vaso-occlusive crisis (VOC) pathogenesis in sickle cell disease (SCD) patients. Background : Vascular in fl ammation has been proven to play a signi fi cant role in the pathogenesis of vaso-occlusive events in SCD. VEGF has been shown to contribute to the increased expression of cell adhesion molecules on the endothelium during in fl ammation. Patients and methods : In this case e control study, human VEGF 2578 C/A (rs699947) genotypes were detected using real-time PCR to study the genotypic distribution among 101 SCD patients (subdivided into 61 with VOC and 40 with the steady state) and 40 healthy controls. Results : The frequency of the AA genotype was signi fi cantly higher in SCD patients with VOC (62.3%) than in those with a steady state (37.5%). However, the CA genotype was signi fi cantly higher in SCD with a steady state than in those with VOC. No signi fi cant difference between both groups as regards the CC genotype ( P ˃ 0.05). For the minor allele effect, the frequency of the A allele was signi fi cantly higher in SCD patients with VOC (72.1%) than in SCD with a steady state (57.5%). Conclusion : Our fi ndings suggest that the VEGF 2578 AA genotype could be a potential risk factor for the development of VOC in SCD.