Association of cell adhesion molecules levels & single nucleotide polymorphisms with vaso-occlusive crisis in sickle cell disease: A cross sectional study

Background & objectives Sickle cell disease (SCD) is a monogenic disorder characterised by aberrant haemoglobin production, leading to haemolytic anaemia and vaso-occlusive crises. Genetic variations and altered expression of cell adhesion molecules (CAMs) are implicated in disease pathogenesis. This cross-sectional study investigated the association between single nucleotide polymorphisms (SNPs) in the SELP, SELE, ICAM-1, and VCAM-1 genes and their protein levels in individuals with SCD. Methods A total of 140 individuals with SCD were recruited. Plasma levels of P-selectin, E-selectin, ICAM-1 and VCAM-1 were measured by ELISA method alongside a control group (n=10). The selected SNPs of SELP, SELE, ICAM-1, and VCAM-1 genes were identified through Sanger sequencing method. Results The expression of adhesion molecules were found to be significantly higher in SCD group as compared to control. Furthermore, the results showed significant associations between SNPs, SELE: c.109+138A>C (P<0.0001), SELE: c.422-25T>C (P<0.0001), and SELE: c.529+15T>C (P=<0.0001) with vaso-occlusive crises even after Bonferroni correction (corrected P=0.0025). Interpretation & conclusions Significant correlation observed between SELP, SELE, and VCAM-1 levels suggests complex interactions of these markers that may influence disease progression and identify potential therapeutic targets for managing SCD complications. Further studies are warranted to validate these findings in larger cohorts and explore the functional implications of the observed genetic and molecular associations in SCD.