Adhesion of circulating cells to the arterial surface is among the first detectable events in atherogenesis. Cellular adhesion molecules, expressed by the vascular endothelium and by circulating leucocytes, mediate cell recruitment and their transendothelial migration. Platelet endothelial cellular adhesion molecule-1 (PECAM-1), involved in this migration, has been associated with the development of atherosclerosis. Studies have investigated an association between coronary artery disease (CAD) and single nucleotide polymorphisms (SNPs) located in functionally important domains of the PECAM-1 gene, with inconsisten results. Thus, we have analysed the distribution of V125L, N563S and G670R SNPs in patients and controls from Northern Italy, also analyzing a novel functional variant identified recently in the 5' UTR of the PECAM-1 gene (53 G>A). The polymorphisms of PECAM-1 were genotyped, by PCR-SSP, in 119 controls and 431 CAD patients.
Our results demonstrate that genotype and allele frequencies for 53 G/A polymorphism are significantly different in patients affected by CAD compared to healthy controls, whereas, as regards V125L, N563S polymorphisms, only the allelic frequency is significantly different.
In our study, we have shown that there were a significant differences for 53 G/A, V125L and N563S polymorphisms of PECAM-1 in patients affected by CAD compared to controls. This demonstrates a possible involvement of this gene in contributing to the development of CAD. An understanding of the role of the PECAM-1 molecule in this complex mechanism is therefore of pivotal significance in order to further develop innovative and suitable medical therapies in the future.