PMID: 8593126Oct 1, 1995Paper

The genetic determinants of plasma cholesterol and response to diet

Baillière's Clinical Endocrinology and Metabolism
S E HumphriesP J Talmud

Abstract

In general, risk factors for multifactorial disorders such as atherosclerosis and hyperlipidaemia show a continuous distribution in the population, and this is the result of both interaction between genetic variation at genetic loci, and genetic and environmental interaction. Therefore, the investigation of the genetics of intermediate phenotypes such as levels of plasma lipid traits is likely to be particularly informative. Once the genes involved in determining the levels of these phenotypes have been identified, it should be possible to use the information to obtain a better understanding of the way these genetic variations determine the clinical end points. In the population it will be possible to identify a number of polygenes that are having a small effect on determining the trait, but for a particular individual, or the relatives of that individual, only a subset of all these polygenes will determine the level of the trait and therefore the risk of developing the disorder. In general, mutations with a large effect on the trait are rare in the population, By contrast, polymorphisms with a small effect on the trait may be common, such as is found with the effect of the apoE alleles and variation at the apoB gene locus on l...Continue Reading

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