Article
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia.
Genes - 6 Apr 2024
Cardiero Giovanna, Ferrandino Martina, Calcaterra Ilenia Lorenza, Iannuzzo Gabriella, Di Minno Matteo Nicola Dario, Buganza Raffaele, Guardamagna Ornella, Auricchio Renata, Di Taranto Maria Donata, Fortunato Giuliana
Abstract excerpt
BACKGROUND: Familial hypercholesterolemia (FH) comprises high LDL-cholesterol (LDL-c) levels and high cardiovascular disease risk. In the absence of pathogenic variants in causative genes, a polygenic basis was hypothesized. METHODS: In a population of 418 patients (excluding homozygotes) with clinical suspicion of FH, the FH-causative genes and the regions of single nucleotide polymorphisms (SNPs) included in...
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