Genetic Architecture of Familial Hypercholesterolaemia

作者：Mahtab Sharifi, Marta Futema, Devaki Nair, Steve E. Humphries · 发表于：Current Cardiology Reports · 年份：2017 · DOI：10.1007/s11886-017-0848-8 · 被引用次数：124 · 研究领域：Lipoproteins and Cardiovascular Health、Cancer, Lipids, and Metabolism、Cholesterol and Lipid Metabolism

PURPOSE OF REVIEW: Familial hypercholesterolaemia (FH) is an inherited disorder of low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol level from birth and a high risk of premature coronary heart disease. In this paper, we review the genetic basis of FH and its impact on the clinical presentation. RECENT FINDINGS: Mutations in any of three genes (LDLR, APOB and PCSK9) are known to cause autosomal dominant FH, but a mutation can be found in only ∼40% of patients with a clinical diagnosis of FH. In the remainder, a polygenic aetiology is most likely, due to the co-inheritance of common LDL-C-raising variants. The cardiovascular presentation and management of FH will differ between patients based on their underlying genetic factors. New genotyping methods such as next-generation sequencing will provide us with better understanding of the genetic architecture of FH.