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DNA polymorphisms of the gene for apolipoprotein B in patients with peripheral arterial disease
M V Monsalve1, R Young, J Jobsis
1Charing Cross Sunley Research Centre, London, U.K.
Insights
DNA variations in the apolipoprotein B gene are linked to arterial disease risk. Specific gene polymorphisms, apolipoprotein B (apo B), show higher frequencies in patients with peripheral arterial disease, suggesting a predisposition role.
Area of Science:
- Genetics
- Cardiovascular Disease
- Molecular Biology
Background:
- Peripheral arterial disease (PAD) is a significant health concern.
- Apolipoprotein B (apo B) plays a crucial role in lipid metabolism and atherosclerosis.
- Genetic variations in the apo B gene may influence the risk of developing arterial diseases.
Purpose of the Study:
- To investigate the frequency of DNA polymorphisms in the human apolipoprotein B gene.
- To determine the association of these polymorphisms with peripheral arterial disease.
- To explore the relationship between apo B gene variations and the presence of coronary and carotid artery disease.
Main Methods:
- DNA was analyzed from 205 patients with documented peripheral arterial disease.
- Restriction Fragment Length Polymorphism (RFLP) analysis was performed using XbaI and EcoRI restriction enzymes.
- Frequencies of specific alleles (X1, X2, R1, R2) and genotypes were determined.
- Lipid profiles (triglycerides, cholesterol, apo B) were measured and compared across patient groups.
Main Results:
- Allele frequencies for XbaI (X1) and EcoRI (R2) polymorphisms were significantly higher in the patient group compared to a healthy London population.
- No significant differences in lipid, lipoprotein, or apolipoprotein levels were observed between patient subgroups.
- A trend was noted where specific XbaI genotypes correlated with serum cholesterol levels, though this varied across different arterial disease presentations.
Conclusions:
- Variations in the apolipoprotein B gene locus are implicated as a predisposing factor for arterial disease.
- These genetic variations do not appear to dictate the specific location (peripheral, coronary, or carotid arteries) of arterial disease development.
- Further research into apo B gene polymorphisms could offer insights into personalized risk assessment for atherosclerosis.
Abstract:
We have determined the frequency of DNA polymorphisms of the gene for human apolipoprotein B, detected with XbaI and EcoRI, in 205 patients with documented peripheral arterial disease. Of the patients, 78 have no evidence of disease in the coronary and carotid arteries, 64 have coexisting coronary artery disease but no evidence of carotid artery disease, 26 patients have coexisting carotid artery disease but no evidence of coronary artery disease, and 37 have coexisting coronary and carotid artery disease. Levels of triglycerides, cholesterol and apolipoprotein B were measured for each patient, and RFLP frequency was determined in all the patients. Lipid, lipoprotein and apolipoprotein levels were not significantly different between the different patient groups. Compared with a sample from the clinically well London population, the frequency of the R2 allele of the polymorphism detected with EcoRI, and the frequency of the X1 allele of the XbaI polymorphism was significantly higher in the patient group. The frequency of these alleles was not significantly different in the different patient groups. In patients with only peripheral arterial disease, individuals with the XbaI genotype X1X1 have the lowest and those with the genotype X2X2 have the highest mean levels of serum cholesterol. However, in all other patient groups this trend was reversed (X1X1 highest and X2X2 lowest). Our observations suggest that variation at the apo B locus is one of the factors involved in predisposing an individual to develop arterial disease but does not determine where in the arterial system the disease develops.