| Title: | Genetic predisposition to cardiovascular and metabolic diseases |
| Lead Institution: | INSERM |
| Principal investigator: | Dr Jean-Jacques Schott |
Application 49823
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About
Cardiovascular diseases are a group of disorders of the heart and blood vessels. They are a leading cause of death, taking millions of lives every year. The number of affected patients is rising due to population ageing and the lack of preventive strategies. Our study aims to identify genetic factors contributing to several diseases affecting the heart or blood vessels : inherited arrhythmia syndromes, valve disorders, intracranial aneurysm, cerebral palsy, dyslipidemias and complications of diabetes. Over the past few years, we identified both rare variants, responsible for familial cases, and common genetic variants associated with these diseases. The identification of such genetic factors gives insight into the mechanisms causing these disorders to develop preventive and therapeutic strategies. The availability of both phenotypic and genetic data in UK Biobank provides a great opportunity to significantly improve power to discover new genes and better understand these diseases and their risk factors. Such strategy is expected to lead to major breakthroughs in the next years in terms of prevention and identification of potential therapeutic targets.3 Publications
| Pub ID | Title | Author(s) | Year | Journal |
|---|---|---|---|---|
| 10823 | A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia | Xavier Vanhoye (+18) | 2022 | Translational Research |
| 7682 | Hepatic SREBP signaling requires SPRING to govern systemic lipid metabolism in mice and humans | Sebastian Hendrix (+15) | 2023 | Nature Communications |
| 8779 | Primary hypocholesterolemia is associated with an increased risk of hepatic complications in the general population | Matthieu Wargny (+13) | 2024 | Journal of Hepatology |
Enabling scientific discoveries that improve human health