Sharifi, M;
Futema, M;
Nair, D;
Humphries, SE;
(2019)
Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.
Current Cardiology Reports
, 21
(6)
, Article 43. 10.1007/s11886-019-1130-z.
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Abstract
Purpose of the Review Identification 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.
| Type: | Article |
|---|---|
| Title: | Polygenic Hypercholesterolemia and Cardiovascular Disease Risk |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1007/s11886-019-1130-z |
| Publisher version: | https://doi.org/10.1007/s11886-019-1130-z |
| Language: | English |
| Additional information: | This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. |
| Keywords: | Science & Technology, Life Sciences & Biomedicine, Cardiac & Cardiovascular Systems, Cardiovascular System & Cardiology, Familial hypercholesterolemia, Polygenic hypercholesterolemia, LDLR gene, APOB gene, PCSK9 gene, CORONARY-HEART-DISEASE, MONOGENIC FAMILIAL HYPERCHOLESTEROLEMIA, CLINICAL UTILITY, LDL CHOLESTEROL, LIPID-LEVELS, DIAGNOSIS, SCORE, MORTALITY, UK |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10073837 |
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