Abstract
Aim: Background. FH is a common genetic disorder (0.5% prevalence) causing elevated LDL-Cholesterol levels and a ten-fold coronary artery disease risk. Three genes causing monogenic FH have been so far identified: LDL-receptor (LDLR), Apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 (PCSK9). In 30-40% of individuals tested for FH after clinical diagnosis a mutation cannot be found. A polygenic cause has been proposed for these subjects, but a large number of them does not fulfil polygenic FH diagnostic criteria either, remaining without a certain diagnosis. Aim. To identify new genes causative of FH in individuals with clinical FH but no genetic diagnosis.
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