Journal of Lipid Research, Vol 32, 1477-1487, Copyright © 1991 by Lipid Research, Inc.

ARTICLES

DNA polymorphisms of the apolipoprotein B and A-I/C-III genes are associated with variations of serum low density lipoprotein cholesterol level in childhood

K Aalto-Setala, J Viikari, HK Akerblom, V Kuusela and K Kontula
Institute of Biotechnology, University of Helsinki, Finland.

A number of restriction fragment length polymorphisms (RFLPs) of the apolipoprotein B (apoB) and apolipoprotein A-I/C-III(apoA-I/C-III) genes have been found to be associated with serum lipoprotein levels in many adult populations. In order to examine whether these genetic polymorphisms influence serum lipoprotein levels in childhood and adolescence, we determined the apoB XbaI and apoA-I/C-III SstI genotypes and serum lipoprotein concentrations in 307 healthy Finns aged 9 to 21 years. In the age groups of 9, 12, and 15 years, subjects homozygous for the X2 allele (the XbaI site present) of the apoB gene had mean serum low-density lipoprotein (LDL) cholesterol levels (3.69, 3.43, and 3.15 mmol/l, respectively) that were 12-20% higher than those in subjects homozygous for the absence of this allele (3.08, 3.02, and 2.80 mmol/l, respectively). This association was more significant in males than in females. At the age of 9 to 18 years, subjects carrying the S2 allele (SstI site present) of the apoA-I/C-III gene complex had an approximately 6-15% higher mean serum LDL-cholesterol level than those homozygous for its absence. The combined genotype X2+S2+ (the simultaneous presence of the X2 allele and the S2 allele) was associated with an even more marked elevation of serum LDL-cholesterol level than either allele alone. As an example, the serum LDL cholesterol concentration was 20% higher in 9-year-old subjects with at least one X2 and one S2 allele than in those without either allele (3.55 vs. 2.97 mmol/l, P less than 0.005). The S2 allele was found to be significantly more frequent in eastern than in western Finland, whereas no significant areal differences were seen in the occurrence of the X2 allele. In conclusion, genetic variations of the apoB and apoA- I/C-III gene loci influence serum lipoprotein concentrations already in childhood.
CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

This article has been cited by other articles:

				C. Pallaud, R. Gueguen, C. Sass, M. Grow, S. Cheng, G. Siest, and S. Visvikis Genetic influences on lipid metabolism trait variability within the Stanislas Cohort J. Lipid Res., November 1, 2001; 42(11): 1879 - 1890. [Abstract] [Full Text] [PDF]

				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]

				S. Tonstad, T. P. Leren, M. Sivertsen, and L. Ose Determinants of Lipid Levels Among Children With Heterozygous Familial Hypercholesterolemia in Norway Arterioscler. Thromb. Vasc. Biol., August 1, 1995; 15(8): 1009 - 1014. [Abstract] [Full Text]