Publications by authors named "Annie Fonteille"
Article Synopsis
- PCSK9 is crucial for regulating LDL-cholesterol and certain variants, like p.Ser127Arg, lead to higher cholesterol levels and are mainly found in France, with few in South Africa and Norway due to a common ancestor effect.
- The study analyzed 14 p.Ser127Arg carriers from eight families and compared them with other variants to understand their genetic background and health impact.
- Results indicated that the common ancestor lived about 775 years ago, and carriers of p.Ser127Arg had significantly higher LDL-C levels, suggesting it may have a stronger effect on cholesterol levels compared to other mutations.
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 Claire Bardel Antoine Rimbert Philippe Moulin Pierre-Antoine Rollat-Farnier Annie Fonteille
Transl Res
May 2023
Genetic diagnosis of familial hypercholesterolemia (FH) remains unexplained in 30 to 70% of patients after exclusion of monogenic disease. There is now a growing evidence that a polygenic burden significantly modulates LDL-cholesterol (LDL-c) concentrations. Several LDL-c polygenic risk scores (PRS) have been set up.
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