The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

Familial hypercholesterolaemia (FH) is a monogenic disorder characterised by high low‐density lipoprotein cholesterol (LDL‐C) concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH‐causing variant is only found in 40%‐50% of the cases. The aim of...

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Veröffentlicht in:	Clinical genetics 2020-03, Vol.97 (3), p.457-466
Hauptverfasser:	Mariano, Cibelle, Alves, Ana Catarina, Medeiros, Ana Margarida, Chora, Joana Rita, Antunes, Marília, Futema, Marta, Humphries, Steve E., Bourbon, Mafalda
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Apolipoprotein B-100 - genetics Apolipoprotein E Cardiovascular diseases Child Cholesterol Cholesterol, LDL - genetics familial hypercholesterolaemia Female Genetic Predisposition to Disease genetic risk score Genotype & phenotype Humans Hyperlipoproteinemia Type II - genetics Hyperlipoproteinemia Type II - pathology Lipid Metabolism, Inborn Errors - genetics Lipid Metabolism, Inborn Errors - pathology Low density lipoprotein Low density lipoprotein receptors Male Middle Aged monogenic dyslipidaemia Multifactorial Inheritance - genetics Mutation - genetics phenocopies Phenotypes polygenic hypercholesterolaemia Polymerase chain reaction Polymorphism, Single Nucleotide - genetics Proprotein Convertase 9 - genetics Receptors, LDL - genetics Single-nucleotide polymorphism Young Adult Zebrafish
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