Author(s): Chaouch L, Kalai M, Ben Jbara M, Darragi I,
Objective: To further define the genetic basis of clinical variability in sickle cell anemia (SCA), we focus on the known functional polymorphisms of MCP-1 and CCR2 and we also discuss their associations with complications of SCA including vaso-occlusive crisis (VOC) and infection. Methods: 100 SCA patients were enrolled in this investigation. The sample of patients was divided into two groups according to the presence or the absence of each complication. Polymorphisms studied namely: MCP-1-2518 A/G and CCR2 –V64I were genotyped for all subjects using PCR/RFLP. To test for trait association with the candidate SNPs, genotype and allele frequencies between cases (group with complication) and controls (group without complication) were compared using Pearson’s chi_square test with a significance threshold of p<0.05 (compare 2, version 1.02). Results: Interestingly, we found a significant associations between MCP1-2518 A/G and V64I of CCR2 and occurrence of vaso-occlusive crisis among SCA patients p<0.05. These associations have not been described previously. Conclusion: The novelty of this report is that it is the first time that a similar study was made on the Tunisian sickle cell population and that the results show a novel association between functional polymorphisms namely: MCP1-2518 A/G and V64I of CCR2 and vaso-occlusive crisis among SCA Tunisian patients.
