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 inflammation has been proven to play a significant role in the pathogenesis of vaso-occlusive events in sickle cell disease. Vascular endothelial growth factor (VEGF), has been shown to contribute to the increased the expression of cell adhesion molecules on the endothelium during inflammation.
Methods: In this case-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 significantly higher in SCD patients with VOC (62.3%) than in those with a steady state (37.5%). However, the CA genotype was significantly higher in SCD with a steady state than in those with VOC. No significant difference between both groups as regards the CC genotype (p˃0.05).For the minor allele effect, the frequency of the A allele was significantly higher in SCD patients with VOC (72.1%) than in SCD with a steady state (57.5%).
Conclusions: Our findings suggest that the VEGF 2578 AA genotype could be a potential risk factor for the development of VOC in sickle cell disease.
Farhan, Marwa S; ElSheemy, Mohammed S; Attalla, Hams A; and Radwan, Wafaa M
"Association of Vascular Endothelial Growth Factor gene Polymorphism 2578C/A with Vaso-occlusive Crisis in sickle disease,"
Menoufia Medical Journal: Vol. 36:
1, Article 16.