Hypertriglyceridemia constitutes an independent risk factor for coronary disease. The gene apolipoprotein A5 (ApoA5) is a newly discovered member in the ApoA1/C3/A4/A5 cluster, and its product, apolip Show more
Hypertriglyceridemia constitutes an independent risk factor for coronary disease. The gene apolipoprotein A5 (ApoA5) is a newly discovered member in the ApoA1/C3/A4/A5 cluster, and its product, apolipoprotein A5, influences on triglycerides through an unknown mechanism. Recently, there have been described the clinical consequences and the functional effects over more than 10 variants of the ApoA5 gene, associated with atherosclerosis. In different studies carried out in different ethnic groups, it has been observed a great variation in the distribution of the ApoA5 genotypes for the respective polymorphisms. Different authors have described associations among the ApoA5 gene, high triglyceride concentrations and an increase in the cardiovascular risk. In this context, the ApoA5 gene is considered as a probable biochemical and genetic marker of increased triglyceride concentrations and also a risk factor of coronary disease in some populations. Show less
Apolipoprotein A5 gene (APOA5) has been shown to modulate plasma triglyceride concentrations. The apolipoprotein E gene (APOE) has been implicated in cholesterol and triglyceride homeostasis in humans Show more
Apolipoprotein A5 gene (APOA5) has been shown to modulate plasma triglyceride concentrations. The apolipoprotein E gene (APOE) has been implicated in cholesterol and triglyceride homeostasis in humans and plays an important role in atherogenesis. The aim of this study was to determine the genotypic distribution of the APOA5 -1131T>C and APOE polymorphisms and to identify the combined association of these variants between patients with and without severe hypertriglyceridemia (HTG). We genotyped 96 individuals who had reached plasma TG concentrations of more than 10 mmol/L and 225 ischemic patients without severe HTG. Minor allele carriers were significantly more frequent in HTG group for all three polymorphisms (APOA5, APOE2 and APOE4). Adjusted individual risks for severe HTG were: APOA5 -1131C, OR=4.1 (95%CI:2.02-8.24); APOE2, OR=1.6 (95%CI:0.73-3.58); APOE4, OR=3.0 (95%CI:1.68-5.86). Adjusted risks for APOA5-APOE combinations were: APOA5 -1131C/APOE2, OR=45.2 (95%CI:4.92-415.5); APOA5 -1131C/APOE4, OR=6.4 (95%CI:2.28-18.01). These data provide evidence that APOA5 -1131T>C polymorphism is associated with risk for severe HTG. Furthermore, this effect is strongly increased when -1131C variant is combined with APOE variants. Show less