The genetic contribution to the risk of thrombosis and cardiovascular disease.
In the general population, variation at certain identified gene loci determines in part the plasma levels of such well-established risk factors for cardiovascular disease (CVD) as cholesterol and fibrinogen, and good progress is being made in understanding the mechanisms of these genetic effects. For any individual, estimation of such risk factors is most appropriately and accurately accomplished by conventional direct methods rather than by genetic tests. However, a DNA test may be more predictive of an individual's future risk than a current measurement if genes also determine the changes seen in the plasma levels of risk factors that occur, for example, with increasing age, with obesity, life-style changes such as diet or smoking, or the onset of disorders such as hypertension or diabetes. Future research should be focused on the precise molecular mechanisms of such gene-environment interaction for genes involved in the control of plasma lipids, coagulation, and the structural components of the vessel wall. When these mechanisms have been determined at the DNA level, this will enable the development of tests that will have a high degree of accuracy and diagnostic potential that will complement current testing strategies to identify individuals at risk of CVD.
Centre for the Genetics of Cardiovascular Disorders, Department of Medicine, University College London Medical School, The Rayne Institute, London WC1E 6JJ, England.
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Humphries