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 lipid levels. In the field of hyperlipidaemia and atherosclerosis research, molecular techniques have already given a great deal of information on how specific sequence variations in some of the candidate genes are involved in determining levels of plasma apoproteins, lipoproteins and lipids. As more mutations and sequence variations are identified, this will not only aid our understanding of the underlying pathology, but should be useful for identifying individuals who are at risk of developing atherosclerosis because of their particular genotype or combination of genotypes. © 1995 Baillière Tindall.
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