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Ser128Arg gene polymorphism for E-selectin and severity of atherosclerotic arterial disease
G Ghilardi1, M L Biondi, O Turri
1General Surgery Unit, Department of Medicine, Surgery and Dentistry, University of Milan, S. Paolo Hospital, Milan, Italy. giorgio.ghilardi@unimi.it
Insights
The E-selectin Ser128Arg polymorphism may be linked to the severity of atherosclerotic disease. While not a definitive risk factor, this genetic variation shows a correlation with more advanced atherosclerosis.
Area of Science:
- Genetics
- Cardiovascular Science
- Molecular Biology
Background:
- Genetic factors play a role in cardiovascular and cerebrovascular diseases.
- Adhesion molecules, including selectins, are involved in leukocyte-endothelial interactions and atherosclerosis pathogenesis.
- The E-selectin Ser128Arg (S128R) polymorphism has been linked to early atherosclerosis.
Purpose of the Study:
- To investigate the E-selectin Ser128Arg polymorphism in individuals with clinically and instrumentally confirmed atherosclerosis.
- To analyze the association between this polymorphism and the clinical severity of atherosclerosis.
Main Methods:
- Studied 144 patients with angiographically documented atherosclerotic disease and 138 controls.
- Extracted DNA from whole blood samples and used polymerase chain reaction (PCR) for amplification.
- Assessed disease severity using a clinical and angiographic scoring scale.
Main Results:
- A trend towards different genotype distributions was observed between patients and controls (p=0.06).
- A significant difference in Arg allele frequency was found in patients with severe versus mild atherosclerotic disease (OR 2.28, p=0.017).
- Four homozygous S128R cases, all with the highest severity scores, were identified exclusively in patients.
Conclusions:
- The E-selectin Ser128Arg polymorphism may be associated with the severity of atherosclerotic disease.
- Further research is needed to determine if this polymorphism is a risk factor for atherosclerosis.
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.
