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Progetto vincitore della Borsa di Studio "Andrea Mezzetti" 2017 - V. Ingrassia



The lifetime exposure to lipid risk factors in cardiovascular high-risk patients: evaluation of a strategy based on the genetic exposure scores combined with the extreme phenotypes analysis

Valeria Ingrassia



Background and rationale: Coronary artery disease (CAD) is the first cause of mortality and morbidity. Genetic factors are claimed to
account for 40–60% of predisposition to CAD. Searching for novel genetic variants contributing to CAD or for new potential therapeutic targets, is predicted to have a substantial medical, social and economical impact.

Objectives: The main objectives are:1) the estimate of the lifelong exposure to lipid-related risk factors by investigating panels of gene variants known to increase or decrease the LDL-C plasma levels; 2) the contribution to CAD risk of rare genetic variants responsible for the extreme lipid phenotypes; 3) the selection of samples to use for next generation sequencing to discover: a) novel rare gene variants responsible of extreme lipid phenotypes and b) novel genes associated to the genetic susceptibility or resistance to CAD.

Methods and research strategy: The study setting is represented by patients with an angiographic documented CAD and individuals with a normal coronary tree. To test the correlations between the lifelong exposure to low or high LDL-C levels we will use a panel of functional SNPs in genes known to modulate the plasma LDL-C levels. The individual genetic exposure score of all subjects will be correlated with the clinical and angiographic features of CAD. Major candidate genes related to LDL, HDL and TG metabolism will be analyzed by next generation sequencing in order to discover novel rare gene variants associated to the genetic susceptibility or resistance to CAD. Subjects with extreme lipid phenotypes non carriers of mutations are candidate for Whole genome sequencing analysis.

Expected results: The results could contribute to improve the CAD risk assessment by introducing genetics-based riskb measurement tools. Furthermore, the search for rare gene variants responsible for extreme lipid phenotypes and CAD risk pave the way to the discovery of potential novel disease mechanisms and/or therapeutic targets.




Presentazione del progetto vincitore della Borsa di Studio “Andrea Mezzetti” - 2017




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38° Congresso Nazionale

38° Congresso Nazionale

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Nutrition, Metabolism and Cardiovascular Diseases

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EAS Advanced Course in Rare Lipid Disease
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