Functional characterization of variants in the 5’ UTR and promoter of LDLR gene

Alves, Ana Catarina; Menezes, Juliane; Fernandes, Rafael; Romão, Luísa; Bourbon, Mafalda

http://hdl.handle.net/10400.18/7812

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Background and Aims: Familia lhypercholesterolemia (FH) is the most common genetic disorder conferring an increased cardiovascular risk due to cholesterol accumulation since birth. The majority of patients with FH phenotype have mutations in LDLR, APOB or PCSK9 genes. In about 50% of patients a variant causing disease has not been possible to find. The 5'and 3’untranslated regions (UTRs) and promoter of these genes is poorly studied. Consequently, few variants were detected in these locations and functional validation is lacking for the ones described. The aim of this project is to perform an in vitro characterization of variants in 5’UTR and promoter of LDLR gene.