| Title: | Ascertainment Bias in the Association Between Elevated Lipoprotein(a) and Familial Hypercholesterolemia |
| Journal: | J Am Coll Cardiol |
| Published: | 2 Jun 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32466883/ |
| DOI: | https://doi.org/10.1016/j.jacc.2020.03.065 |
Publication 3249
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Abstract
Lipoprotein(a) is an atherogenic low-density lipoprotein like particle and circulating levels are largely determined by genetics. Patients with familial hypercholesterolemia, an autosomal dominant genetic disorder characterized by elevated low-density lipoprotein cholesterol and increased risk of coronary artery disease also have been observed to have elevated levels of lipoprotein(a); however, it remains unclear why. This study sough to answer whether the occurrence of elevated lipoprotein(a) among individuals with familial hypercholesterolemia is due to a biological phenomenon or ascertainment bias. In this cohort study of the UK Biobank, which represents a population sample not biased to cardiovascular ascertainment, lipoprotein(a) levels were not statistically different between individuals with and without a familial hypercholesterolemia-associated variant (n = 221 vs. 37,486). We also performed a phenome-wide association study between LPA genotypes and ~19,000 phenotypes to demonstrate that elevated lipoprotein(a) is associated with increased low-density lipoprotein cholesterol, a family history of cardiovascular disease, premature coronary artery disease, and a diagnosis of familial hypercholesterolemia. These results suggest that familial hypercholesterolemia does not cause elevated lipoprotein(a), but that elevated lipoprotein(a) increases the likelihood that an individual with genetic familial hypercholesterolemia will be clinically recognized.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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