Portuguese Familial Hypercholesterolemia Study as the basis of APOB Variants Database

• Author(s): Ferreira, M. ; Chora, J.R. ; Medeiros, A.M. ; Bourbon, M. ; Alves, A.C.
• Date: 2022
• Persistent ID: http://hdl.handle.net/10400.18/8689
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Familial Hypercholesterolemia; Disorder of Lipid Metabolism; Doenças Cardio e Cérebro-vasculares; Portugal
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

Familial hypercholesterolemia (FH) is na autosomal semi dominant disorder of lipid metabolismo associated with increased cardiovascular risk. The genetic diagnosis of FH is usually based on the analysis of three main genes: LDLR, APOB, and PCSK9. APOB variants are responsible for about 5%-10% of FH cases and in the last years, the whole gene has been sequenced due to next generation sequencing (NGS), increasing the variant spectrum of APOB.