Anna Balcerzyk1, Iwona Zak, Jolanta Krauze. 1. Department of Biochemistry and Medical Genetics, Medical University of Silesia, Katowice, Poland. abalcerzyk@slam.katowice.pl
Abstract
BACKGROUND: Genetic susceptibility to coronary artery disease (CAD) may be determined by polymorphic variants of genes encoding isoforms involved in the processes important in the pathogenesis of atherosclerosis, including lipoprotein oxidation. Participation of single polymorphic variants is relatively small; however, its significance may increase in the presence of specific environmental background. The aim of the study was an evaluation of a possible association between R192Q polymorphism of PON1 gene and CAD as well as interactions between polymorphic variants and conventional risk factors of CAD in determining the risk of the disease. METHODS: We studied 358 subjects: 178 patients with angiographically confirmed CAD and 180 blood donors without history of CAD. Polymorphisms were genotyped using PCR-RFLP method. RESULTS: We observed statistically significant differences in the frequencies of Q allele and Q allele carriers of PON1 gene between CAD and controls. We also found a strong synergistic effect between Q allele carrier state and smoking, as well as Q allele carrier state and elevated level of total cholesterol. CONCLUSIONS: The present study revealed an association between carrier state of Q allele of PON1 gene and coronary artery disease as well as synergistic effects between genotype and some conventional risk factors, mainly smoking and elevated level of total cholesterol.
BACKGROUND: Genetic susceptibility to coronary artery disease (CAD) may be determined by polymorphic variants of genes encoding isoforms involved in the processes important in the pathogenesis of atherosclerosis, including lipoprotein oxidation. Participation of single polymorphic variants is relatively small; however, its significance may increase in the presence of specific environmental background. The aim of the study was an evaluation of a possible association between R192Q polymorphism of PON1 gene and CAD as well as interactions between polymorphic variants and conventional risk factors of CAD in determining the risk of the disease. METHODS: We studied 358 subjects: 178 patients with angiographically confirmed CAD and 180 blood donors without history of CAD. Polymorphisms were genotyped using PCR-RFLP method. RESULTS: We observed statistically significant differences in the frequencies of Q allele and Q allele carriers of PON1 gene between CAD and controls. We also found a strong synergistic effect between Q allele carrier state and smoking, as well as Q allele carrier state and elevated level of total cholesterol. CONCLUSIONS: The present study revealed an association between carrier state of Q allele of PON1 gene and coronary artery disease as well as synergistic effects between genotype and some conventional risk factors, mainly smoking and elevated level of total cholesterol.