| Title: | Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease |
| Journal: | JAMA Cardiol |
| Published: | 1 Apr 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32049305/ |
| DOI: | https://doi.org/10.1001/jamacardio.2019.5954 |
Publication 2382
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Abstract
This study sough to answer whether the risk of atherosclerotic cardiovascular disease was different between individuals with without genetic causes for high levels of low-density lipoprotein cholesterol in the blood, termed hypercholesterolemia. In this cohort study of 48 741 adults recruited by the UK Biobank, a monogenic cause for hypercholesterolemia was found in 277 participants (0.57%) and a polygenic cause in 2379 participants (4.9%). Both polygenic and monogenic causes of hypercholesterolemia appeared to be associated with an increased risk of atherosclerotic cardiovascular disease compared with hypercholesterolemia from an unknown cause; however, monogenic hypercholesterolemia was associated with the greatest risk of atherosclerotic cardiovascular disease (need for revascularization, myocardial infarction, stroke or all-cause mortality). The findings of this study suggest that among individuals with comparable levels of low-density lipoprotein cholesterol, monogenic hypercholesterolemia may be associated with the greatest risk of atherosclerotic cardiovascular disease followed by polygenic hypercholesterolemia. Thus, understanding the possible genetic cause of hypercholesterolemia may provide important information to diagnose and treat patients with hypercholesterolemia.1 Author
- Trinder M et al.
1 Application
| Application ID | Title |
|---|---|
| 42857 | Influence of plasma lipoprotein genetics on infectious disease outcomes |
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