Polygenic Hypercholesterolemia and Cardiovascular Disease Risk
Current Cardiology Reports(2019)
摘要
Purpose of the Review I dentification of loci and common single-nucleotide polymorphisms (SNPs) that have modest effects on plasma lipids have been used to confirm or refute the causal role of lipid traits in the development of coronary heart disease (CHD), and as tools to identify individuals with polygenic hypercholesterolemia. Recent Findings Several groups have reported on the use of SNP scores in distinguishing individuals with a clinical diagnosis of familial hypercholesterolemia (FH) with a monogenic or polygenic etiology. We review evidence that those with monogenic FH have worse prognosis and discuss the possible mechanisms for this and their management. Summary Individuals with a clinical phenotype of FH and a monogenic cause are at greater risk of CHD than those where no causative mutation can be found. The patients with polygenic hypercholesterolemia would not require elaborate cascade screening or secondary care input for their management.
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关键词
Familial hypercholesterolemia, Polygenic hypercholesterolemia,
LDLR gene,
APOB gene,
PCSK9 gene
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