Abstract
Aim: Background. Familial hypercholesterolemia (FH) is a very prevalent genetic disease causing high LDL-cholesterol levels and a 10-fold increased cardiovascular risk. The gold standard for diagnosis is genetic screening of LDLR, APOB and PCSK9 genes. However, 40% of individuals with a clinical FH are negative for the genetic screening. It has been proposed that these individuals are affected by polygenic hypercholesterolemia, determined by multiple common mutations (SNPs) affecting LDL-cholesterol levels. A SNP score based on 6 SNPs is available to determine polygenic hypercholesterolemia.
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