Association of genotypic variants of vascular cell adhesion molecule -1 with the risk of stroke in Sudanese sickle cell anemia patients
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Background: Sickle cell anemia (SCA) is a monogenic disorder caused by a homozygous mutation in the β-globin gene resulting in early death and morbidity. Stroke is one of its most devastating complications. Vascular cell adhesion molecule 1 gene postulated to play a critical role in the pathogenesis of SS disease. Previous evidence has demonstrated that the nonsynonymous SNP, VCAM11238G ˃ C(rs3783613), may be associated with protection from stroke while1594T ˃ C (rs1041163) SNP had an association with stroke. Methodology: This was a cross-sectional, randomized study that included 131 patients diagnosed with (SCA), among them 40 subjects with history of clinical stroke and 91 subjects with other complications of (SCA). Genotyping of the VCAM1 SNPs was carried out using PCR-RFLP technique and confirmed by sequencing a subset of samples. The results were analyzed using bioinformatics tools. The aim of the present study was to detect the presence of VCAM1 SNPs(rs3783613) and (rs1041163) among Sudanese patients with(SCA) with and without ischemic stroke respectively to determine whether it has an influence on the risk of stroke. Results: Molecular analysis revealed presence of VCAM1 T1594 C mutant genotype among the stroke study group in only 21/40 (52.5%). We also found almost complete absence of VCAM1 G1238C polymorphism among the non-stroke patients. Conclusion: No association between VCAM1 1594Cvariant and stroke in our population of patients. No protective correlation between the VCAM11238C variant and the non-stroke patients of (SCA) patients included in this study.
Keywords: ischemic stroke, VCAM1, rs3783613, rs1041163, sickle cell anemia.