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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




Area Soci


34° Congresso Nazionale

34° Congresso Nazionale

Virtual edition,
22-24 Novembre 2020
Programma completo

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Congresso Regionale SISA Sezione Triveneto

Webinar, 29 Maggio 2021

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Spring Meeting Gruppi Giovani SIIA, SIMI, SIPREC, SISA 2021

Virtual Edition,
21-22 Maggio 2021

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Congresso Regionale SISA Sezione Lazio

Online Edition, 12 Dicembre 2020

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SISA LIPID ACADEMY - Corso avanzato di lipidologia clinica

Digital Edition

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Congresso Regionale SISA Sezione Lombardia

Milano, 15-17 Ottobre 2020
Programma preliminare

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Giornale Italiano Arteriosclerosi

Rivista in lingua italiana
riservata ai Soci S.I.S.A.
Ultimo numero:
Anno 11 • N.4/2020

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HoFH today

Rivista Italiana della
Familiare Omozigote
Anno 2 • N.1/2020

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Rivista NMCD

Nutrition, Metabolism and Cardiovascular Diseases

Istruzioni per l'accesso online

IF 2018: 3.340


EAS Advanced Course in Rare Lipid Disease
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Progetto vincitore della Borsa di Studio "Andrea Mezzetti" 2019 - C. Marchi
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