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Genetic polymorphisms and coronary artery disease in the south of France
I Canavy1, M Henry, P E Morange
1Dept Cardiology, CHU Timone, Marseille, France.
Insights
Genetic variations in the angiotensin II type 1 receptor (AT1R) gene are linked to increased risk of myocardial infarction and vasospastic angina. Other genetic factors studied showed no significant association with these vascular diseases.
Area of Science:
- Cardiovascular Genetics
- Molecular Cardiology
- Vascular Biology
Background:
- Vascular diseases, including myocardial infarction (MI) and angina pectoris, stem from complex atherosclerotic and thrombotic processes.
- Genetic polymorphisms are increasingly recognized as contributing factors to the development of these conditions.
Purpose of the Study:
- To investigate the association between specific genetic polymorphisms and the risk of MI or vasospastic angina pectoris.
- To analyze polymorphisms in the renin-angiotensin system and hemostatic factors within a Southern French population.
Main Methods:
- Genotyping was performed for D/I polymorphism of the ACE gene, A1166C polymorphism of the AT1R gene, -675 4G/5G polymorphism of the PAI-1 gene, and Factor XIII gene mutation.
- Genotype distributions were compared between coronary artery disease patients (MI and vasospastic angina) and healthy controls.
Main Results:
- The A1166C polymorphism of the AT1R gene showed a significantly higher prevalence of the C allele in patients with MI (61%) and vasospastic angina (76%) compared to controls (45%).
- Carriers of the AT1R C allele had an odds ratio of 2 for MI and 4.3 for vasospastic angina.
- No significant differences in genotype distributions were observed for ACE, PAI-1, or Factor XIII polymorphisms between patient and control groups.
Conclusions:
- The AT1R gene A1166C polymorphism plays a significant role in the susceptibility to myocardial infarction and vasospastic angina.
- Genetic variations in ACE, PAI-1, and Factor XIII do not appear to be associated with these vascular conditions in the studied population.
Abstract:
Vascular disease is a multifactorial disease that involves atherosclerotic and thrombotic factors. Genetic polymorphisms have been associated with myocardial infarction and angina pectoris. The aim of the present study was to assess the relationship between some genetic polymorphisms and myocardial infarction (MI) or vasospastic angina pectoris in a population from southern France. Genetic polymorphisms of the renin angiotensin system (the D/I polymorphism of the ACE gene and the A1166C polymorphism of the angiotensin II type 1 receptor [AT1R]) and of haemostatic factors (the -675 4G/5G polymorphism of the plasminogen-activator inhibitor 1[PAI-1] gene, and the G to T common point mutation in exon 2, codon 34 of the Factor XIII A-subunit gene) were examined. We assessed the genotype distribution in consecutive coronary artery disease (CAD) patients with MI (n = 201) and vasospastic angina pectoris (n = 43) and in 244 healthy controls comparable in age, sex, body mass index and total cholesterol level. The genotype distribution of AT1R polymorphism was significantly different between controls and patients, the prevalence of the C allele carriers being higher in patients with MI after the age of 45 than in control individuals (61 vs 45%, p <0.01), leading to an odds ratio (OR) of 2 (CI: 1.2-3.4). When looking at the group of patients with vasospastic angina the difference was even higher (76 vs 45%, p <0.01) yielding an OR of 4.3 (CI: 1.4-17.4). Genotype distributions of ACE, PAI-1 and Factor XIII polymorphisms were similar in patients and in controls. This study is in favor of a role of ATIR gene polymorphism in myocardial infarction and vasospastic angina.