Diabetes and Cardiovascular Disease - Genetic Epidemiology

Department of Clincial Sciences Malmö

Recent genomewide association studies have localized common DNA sequence variants that contribute to many human phenotypes. The success of this approach has been particularly striking for blood lipoprotein levels. We have convincingly mapped 30 loci (17 novel) that contribute to variation in lipoprotein concentrations and created a genetic risk score consisting of nine genes to predict cardiovascular disease (CVD). As DNA sequence variants represent an index of lifelong exposure, they may add predictive information beyond conventional risk factors like single measurements of blood lipids. Genetic testing in polygenic traits is, however, challenged by the fact that sequence variants discovered to date each explain only a modest fraction of the variance. As a first step to develop a potential clinical tool integrating conventional risk factors with novel independent predictors, we have recently evaluated a panel of nine validated lipid SNPs to predict a first cardiovascular disease event in Swedish population.

Using unique large population and patient cohorts, bioinformatic tools and functional studies, this research proposal aims to investigate interactions between dietary factors and common genetic variants affecting our risk for dyslipidemia and obesity, to identify rare variants with stronger effect on circulating lipid levels, to further understand the functional consequences of the identified novel genetic variuants and their association with different lipid subfractions, and to evaluate the incremental value of which genetic markers can be used for risk prediction purposes for future clinical use.

Our studies will contribute to understanding of the pathological mechanisms in dyslipidaemia and cardiovascular complications in type 2 diabetes and normal population. Hopefully, this can lead us towards better genetic risk assessment, recommendations, prevention and treatment possibilities and potential savings in terms of health spending, life years and quality of life.

• Printerfriendly version
• Go back

Last updated: October 8, 2009
Website contact: LUDC webteam