Ser128Arg gene polymorphism for E-selectin and severity of atherosclerotic arterial disease.
AIM: Genetic factors appear to be important in the pathogenesis of cardiovascular and cerebrovascular disease. Adhesion molecules like the members of the selectin family participate in the interaction between leukocytes and the endothelium. They are also involved in the pathogenesis of the atherosclerotic process. In E-selectin, exchange from serine to arginine (position 128, S128R) is correlated with early atherosclerosis. The aim of this study was to assess E-selectin Ser128Arg polymorphism in subjects with clinical and instrumental evidence of atherosclerosis and to analyze the correlations with clinical severity. METHODS: A total of 144 subjects (100 men and 44 women, mean age 72 years, range 48-78) with atherosclerotic disease in different vascular sites documented by angiography were studied; 138 volunteers were recruited as a control group. Whole blood was collected; DNA was extracted with a commercial kit and amplified with 2 primers. The PCR was performed by standard procedure. To assess the disease severity all patients were classified by an arbitrary clinical and angiographic score scale. RESULTS: The genotype distribution between patients and controls was different, although statistical significance was not achieved (p=0.06). In patients a significant difference in Arg allele frequency was observed between mild and severe atherosclerotic disease (OR 2.28; 95% CI 1.15-4.52; p=0.017). Four ho-mozygous cases for S128R were found in patients, none in controls. All these 4 patients had the highest severity score, that means a more severe atherosclerotic disease. CONCLUSION: Our study suggests that the E-selectin polymorphism may be associated with severity of atherosclerotic disease, but does not allow us to conclude that it is actually a risk factor for atherosclerosis.