Association of DNA polymorphism at the apolipoprotein B gene locus with coronary heart disease and serum very low density lipoprotein levels.

Abstract

The role of genetic variation at the 3' end of the apolipoprotein B gene locus In the development of coronary heart disease and the regulation of the serum levels of various lipoprotelns was studied by using two common restriction fragment length polymorphisms detected with the enzymes Xba I and EcoR I. A group of 106 male patients with coronary heart disease and 118 matched controls of Austrian origin were Investigated. The frequency of the R2 allele of the EcoR I polymorphism at cDNA position 12 669 defined by the absence of the polymorphic EcoR I cutting site was significantly higher among patients than among controls. The controls with the R2 allele had significantly higher levels of total triglycerides, very low density lipoprotein (VLDL) triglycerides, and VLDL cholesterol than did the controls without this allele. Among the patients, the R2 allele was associated with higher serum VLDL apolipoprotein B levels. The chemical composition of VLDL In Individuals with different genotypes for the EcoR I polymorphism did not differ significantly. For the Xba I polymorphism at cDNA position 7673, no correlation with coronary risk could be demonstrated. Patients and controls homozygous for the X2 allele characterized by the presence of the polymorphic Xba I cutting site showed a higher total and low density lipoprotein cholesterol level than did subjects with the genotype X1X1 or X1X2. This difference, however, was not statistically significant. These findings Indicate that the R2 allele of the EcoR I polymorphism Is associated with the occurrence of coronary heart disease and that variation at the 3' end of the apo B gene Is Involved In the regulation of VLDL metabolism.

Does the EcoRI polymorphism in the human apolipoprotein B gene affect the binding of low density lipoprotein to the low density lipoprotein receptor?

“…This could contribute to the association, in human populations, between CAD and the E" allele, as coronary atherosclerosis is related positively to serum cholesterol concentration. 7 Although a statistically significant association between the E" allele and serum cholesterol level was not observed in the previously cited studies, in one study 6 the mean serum cholesterol level in patients and controls was highest in E~/~ subjects, lowest in those with E + / + , and intermediate in those with E + /~. This is consistent with the possibility that the EcoRl polymorphism is one among several factors contributing to population variability in serum cholesterol level.…”

The X-X-/E+E+ genotype of the XbaI/EcoRI polymorphisms of the apolipoprotein B gene as a marker of coronary artery disease in a Brazilian sample

“…Bohn and Berg (17) cited significant positive associations between CAD and the Xallele and/or the X-X-genotype in five studies (6-10), and reported that this association was not observed in seven other studies (18)(19)(20)(21)(22)(23)(24). The X-X-genotype was more frequent in Brazilian women with CAD than in control women (25).…”

Association Between Apolipoprotein B XbaI Polymorphism and Coronary Heart Disease in Han Chinese Population: A Meta-Analysis

“…Its function as a recognition signal for cellular binding and internalization of LDL particles by the ApoB receptor maintains cholesterol balance in the blood (Disterer et al, 2013;Corsetti et al, 2014). ApoB gene plays the key role in the accumulation of lipid and regulates the balance of cholesterol (Paulweber et al, 1990;Pencina et al, 2015). XbaI locus often has a mutation, which was considered to increase the susceptibility of atherosclerosis of coronary artery (Myant et al, 1989;Genest et al, 1990).…”