![]() | Only 14 pages are availabe for public view |
Abstract Background: Sickle cell disease (SCD) induces chronic states of oxidative stress that results in increased production of advanced glycation end products (AGEs) which cause a wide range of deleterious effects mediated by their receptors RAGE. Because the gene of RAGE is highly polymorphic, and expressed at sites of stress and vascular injury. So we tested the relation between RAGE polymorphisms and SCD vasculopathy. Aim of the Work: To investigate the association of the RAGE gene polymorphism with SCD patients and to assess the influences of these polymorphisms on the disease progression & complications. Patients and Methods: This study was conducted on 40 SCD patients and 40 healthy controls of matched age and sex, attending Ain Shams University Hospitals. Assay of 374T/A and G82S RAGE gene polymorphisms were done to all subjects by real time Polymerase Chain Reaction. Results: A significant difference in genotype distribution and allele frequency of 374T/A RAGE gene polymorphism between SCD patients and control group (P = 0.025 and 0.018, respectively), while no statistically difference was found as regards G82S polymorphism. The sub-analysis of patients according to their genotypes revealed that patients with 374 AA genotype (40%) were less prone to develop sickling crisis and none of these patients had a history of stroke compared to their counterparts carrying the genotypes TA (21%), TT (3%) (P = 0.006 and 0.005, respectively). Logistic regression analysis proved that T allele of 374T/A polymorphism is a significant independent predictor of frequent sickling crisis. Conclusion: Our study confirmed 374T/A polymorphism has been identified in SCD patients and may be considered as marker of vascular dysfunction. |