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The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives
The current review describes the development, clinical relevance and potential caveats of polygenic risk scores (PRS) for LDL cholesterol (LDL-C). RECENT FINDINGS: In recent years, a large number of common variants have been shown to have a small effect on LDL-C levels. The aggregate effect of all o...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984749/ https://www.ncbi.nlm.nih.gov/pubmed/33560669 http://dx.doi.org/10.1097/MOL.0000000000000741 |
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author | Cupido, Arjen J. Tromp, Tycho R. Hovingh, G. Kees |
author_facet | Cupido, Arjen J. Tromp, Tycho R. Hovingh, G. Kees |
author_sort | Cupido, Arjen J. |
collection | PubMed |
description | The current review describes the development, clinical relevance and potential caveats of polygenic risk scores (PRS) for LDL cholesterol (LDL-C). RECENT FINDINGS: In recent years, a large number of common variants have been shown to have a small effect on LDL-C levels. The aggregate effect of all of these variants on LDL-C levels can be captured in a PRS and an elevated number of LDL-C increasing common variants is considered to be a cause of high LDL-C levels in patients with familial hypercholesterolemia (FH) without a large effect, rare mutation. PRS do not only serve as a tool in diagnostics, but are also helpful in cardiovascular disease (CVD) risk prediction. Moreover, PRS modulate CVD risk even in patients without a monogenic FH. However, future larger scale PRS directly aimed at CVD risk may serve as more sensitive tools to identify individuals with severely increased CVD risk. SUMMARY: LDL-C PRS help explain part of hypercholesterolemia in a proportion of dyslipidemic patients that do not have monogenic FH. Nevertheless, the CVD risk conferred by current PRS does not appear to match that of monogenic FH. LDL-C PRS are currently not widely used in clinical care. |
format | Online Article Text |
id | pubmed-7984749 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-79847492021-03-29 The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives Cupido, Arjen J. Tromp, Tycho R. Hovingh, G. Kees Curr Opin Lipidol GENETICS AND MOLECULAR BIOLOGY: Edited by Robert A. Hegele The current review describes the development, clinical relevance and potential caveats of polygenic risk scores (PRS) for LDL cholesterol (LDL-C). RECENT FINDINGS: In recent years, a large number of common variants have been shown to have a small effect on LDL-C levels. The aggregate effect of all of these variants on LDL-C levels can be captured in a PRS and an elevated number of LDL-C increasing common variants is considered to be a cause of high LDL-C levels in patients with familial hypercholesterolemia (FH) without a large effect, rare mutation. PRS do not only serve as a tool in diagnostics, but are also helpful in cardiovascular disease (CVD) risk prediction. Moreover, PRS modulate CVD risk even in patients without a monogenic FH. However, future larger scale PRS directly aimed at CVD risk may serve as more sensitive tools to identify individuals with severely increased CVD risk. SUMMARY: LDL-C PRS help explain part of hypercholesterolemia in a proportion of dyslipidemic patients that do not have monogenic FH. Nevertheless, the CVD risk conferred by current PRS does not appear to match that of monogenic FH. LDL-C PRS are currently not widely used in clinical care. Lippincott Williams & Wilkins 2021-04 2021-02-04 /pmc/articles/PMC7984749/ /pubmed/33560669 http://dx.doi.org/10.1097/MOL.0000000000000741 Text en Copyright © 2021 The Author(s). Published by Wolters Kluwer Health, Inc. http://creativecommons.org/licenses/by-nc-nd/4.0 This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0 |
spellingShingle | GENETICS AND MOLECULAR BIOLOGY: Edited by Robert A. Hegele Cupido, Arjen J. Tromp, Tycho R. Hovingh, G. Kees The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives |
title | The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives |
title_full | The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives |
title_fullStr | The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives |
title_full_unstemmed | The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives |
title_short | The clinical applicability of polygenic risk scores for LDL-cholesterol: considerations, current evidence and future perspectives |
title_sort | clinical applicability of polygenic risk scores for ldl-cholesterol: considerations, current evidence and future perspectives |
topic | GENETICS AND MOLECULAR BIOLOGY: Edited by Robert A. Hegele |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7984749/ https://www.ncbi.nlm.nih.gov/pubmed/33560669 http://dx.doi.org/10.1097/MOL.0000000000000741 |
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