G. Assmann – författare

The purpose of this workshop was to assess the value of DNA polymorphisms for the prediction, diagnosis or elucidation of aetiology for common metabolic diseases such as diabetes, hyperlipidaemia and atherosclerosis. The advent of recombinant DNA techniques has produced an explosion in knowledge of restriction site polymorphisms and hypervariable sequences around candidate genes for such common metabolic diseases as atherosclerosis, hyperlipidaemia and diabetes mellitus. These diseases are the major causes of morbidity and mortality in Western societies today. Since 1983 it has become apparent that there is much more variation in the frequency and sites of these DNA polymorphisms in human populations than was initially appreciated and that the majority of these DNA polymorphisms are only linkage markers for the disease. Consequently it was considered timely for laboratories involved in the mapping of these DNA mutations to meet together to discuss the implications of their studies. The main issues are whether such DNA polymorphisms will lead to an identification of major aetiological loci and which are the best techniques to achieve this? What is the cause of the differences in frequencies of such polymorphisms amongst world populations? Are such studies best conducted in homogeneous populations or in pedigrees? Are haplotypes, though more laborious to construct, a better way to proceed than analysis of single site polymorphisms? What are the consensus polymorphic sites that relate to the common metabolic diseases of diabetes, atherosclerosis and the hyperlipidaemias? The real need now to discuss the theoretical background behind the

The purpose of this workshop was to assess the value of DNA polymorphisms for the prediction, diagnosis or elucidation of aetiology for common metabolic diseases such as diabetes, hyperlipidaemia and atherosclerosis. The advent of recombinant DNA techniques has produced an explosion in knowledge of restriction site polymorphisms and hypervariable sequences around candidate genes for such common metabolic diseases as atherosclerosis, hyperlipidaemia and diabetes mellitus. These diseases are the major causes of morbidity and mortality in Western societies today. Since 1983 it has become apparent that there is much more variation in the frequency and sites of these DNA polymorphisms in human populations than was initially appreciated and that the majority of these DNA polymorphisms are only linkage markers for the disease. Consequently it was considered timely for laboratories involved in the mapping of these DNA mutations to meet together to discuss the implications of their studies. The main issues are whether such DNA polymorphisms will lead to an identification of major aetiological loci and which are the best techniques to achieve this? What is the cause of the differences in frequencies of such polymorphisms amongst world populations? Are such studies best conducted in homogeneous populations or in pedigrees? Are haplotypes, though more laborious to construct, a better way to proceed than analysis of single site polymorphisms? What are the consensus polymorphic sites that relate to the common metabolic diseases of diabetes, atherosclerosis and the hyperlipidaemias? The real need now to discuss the theoretical background behind the

The tandem pace of medical knowledge and prevention of ischaemic heart disease over the past 50 years is testimony to the effectiveness of a combination of massive scientific research, continuous transfer of the results to medical practice, community actions and population aware­ ness. The death rate from coronary heart disease in the United States rose 20% from 1950 to 1963, when a dramatic and steady downward inflection began, arriving today at a rate over 50% lower. Numerous factors have contributed to this success. By 1950 lipoproteins had just been discovered, but a decade later a great surge in research had focussed upon plasma cholesterol and lipoprotein concentrations as major predictors of risk. Today, a continuing expansion and sophistica­ tion of that research has removed all doubt about the significance of particular patterns. The pathway to ideal prophylaxis, however, particu­ larly for risks associated with inherited lipoprotein disorders, still awaits the untangling of great amounts of new information that continue to rise from application of molecular technology. This volume deals with many of the contemporary puzzles. One theme revolves about the high density lipoproteins. For twenty years the HDL have been considered a defence against the caprices of the LDL, now believed to be particularly villainous after oxidation.