Polymorphism and Association of the E-selectin and ICAM-1-K469E Genes with Sickle Cell Disease in Congo

Introduction: E-selectin and ICAM-1 are cellular adhesion molecules that play important roles in the pathogenesis of Sickle Cell Disease (SCD), especially vaso-occlusion process. Numerous studies reported single nucleotide polymorphisms genes may be associated with clinical expression several diseases. However, no evidence exists regarding association SCD. Objectives: Investigate E-selectins (S128R S149R) ICAM-1K469E SCD Congolese patients. Methodology: This case-control study included 110 patients vaso-occlusive pain crisis 120 controls (healthy non-sickle cell subjects). Polymorphisms were genotyped by PCR-RFLP method. The differences genotype allele frequencies between both groups analyzed Fisher’s exact test. A P level <0.05 was considered significant. Results: frequency ICAM-1-K469E EE significantly higher compared to (8.2% vs 0.8%; P=0.008). odd ratio value (OR=11.89; 95% CI = 1.48-96.53; P=0.01) indicated a high Furthermore, E also (OR=1.72; CI=1.10-2.68; By contrast, statistically significant found E- selectin S128R S149R polymorphisms. Conclusion: Our findings suggest polymorphism among patients, possibly crisis. genetic risk factors. because small sample size, this report should as exploratory further required confirm these associations