Arteriosclerosis, Vol 10, 17-24, Copyright © 1990 by American Heart Association

ARTICLES

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

B Paulweber, W Friedl, F Krempler, SE Humphries and F Sandhofer
First Department of Medicine, Landeskrankenanstalten, Salzburg, Austria.

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 lipoproteins 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.

This article has been cited by other articles:

				F. M. van 't Hooft, S. Jormsjö, B. Lundahl, P. Tornvall, P. Eriksson, and A. Hamsten A functional polymorphism in the apolipoprotein B promoter that influences the level of plasma low density lipoprotein J. Lipid Res., September 1, 1999; 40(9): 1686 - 1694. [Abstract] [Full Text]

				P. M. Frossard, E. N. Obineche, and G. G. Lestringant Association of an Apolipoprotein B Gene Marker With Essential Hypertension Hypertension, April 1, 1999; 33(4): 1052 - 1056. [Abstract] [Full Text] [PDF]

				J. Lopez-Miranda, J.M. Ordovas, M.A. Ostos, C. Marin, S. Jansen, J. Salas, A. Blanco-Molina, J.A. Jimenez-Pereperez, F. Lopez-Segura, and F. Perez-Jimenez Dietary Fat Clearance in Normal Subjects Is Modulated by Genetic Variation at the Apolipoprotein B Gene Locus Arterioscler. Thromb. Vasc. Biol., September 1, 1997; 17(9): 1765 - 1773. [Abstract] [Full Text]

				H. Gylling, K. Kontula, U.-M. Koivisto, H. E. Miettinen, and T. A. Miettinen Polymorphisms of the Genes Encoding Apoproteins A-I, B, C-III, and E and LDL Receptor, and Cholesterol and LDL Metabolism During Increased Cholesterol Intake: Common Alleles of the Apoprotein E Gene Show the Greatest Regulatory Impact Arterioscler. Thromb. Vasc. Biol., January 1, 1997; 17(1): 38 - 44. [Abstract] [Full Text]

				H. Gylling, K. Kontula, and T. A. Miettinen Cholesterol Absorption and Metabolism and LDL Kinetics in Healthy Men With Different Apoprotein E Phenotypes and Apoprotein B Xba I and LDL Receptor Pvu II Genotypes Arterioscler. Thromb. Vasc. Biol., February 1, 1995; 15(2): 208 - 213. [Abstract] [Full Text]