ArticleCirculation. Genomic and precision medicine2018
Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.
Article in Circulation. Genomic and precision medicine, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- Local ancestry-informed rare variant burden testing improves gene discovery in admixed populations.medRxiv : the preprint server for health sciences · 2026Article
- A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.Circulation · 2026Article
- Exome-wide association study of blood lipids in 1,158,017 individuals from diverse populations.Nature genetics · 2026Article
- Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.Deutsches Arzteblatt international · 2025Observational
- Sex and racial differences in prevalence and clinical characteristics of people living with LDLR and PCSK9 familial hypercholesterolemia genetic variants: Data from the All of Us Research program.American journal of preventive cardiology · 2025Article
- Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.International journal of molecular sciences · 2024Article
- Apolipoproteins in Health and Disease.International journal of molecular sciences · 2024Article
- Article
- PLK3 promotes the proneural-mesenchymal transition in glioblastoma via transcriptional regulation of C5AR1.Molecular biology reports · 2023Article
- Monogenic Versus Polygenic Forms of Hypercholesterolemia and Cardiovascular Risk: Are There Any Differences?Current atherosclerosis reports · 2022Review
- Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure.Circulation. Genomic and precision medicine · 2022Article
- Multi-Omic Approaches to Identify Genetic Factors in Metabolic Syndrome.Comprehensive Physiology · 2021Article
- A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.American journal of preventive cardiology · 2021Article
- Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.Circulation. Genomic and precision medicine · 2020Article
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Authors and funding
18 authors.
Funding
Abstract
Background: Familial hypercholesterolemia (FH) is characterized by inherited high levels of low-density lipoprotein cholesterol (LDL-C) and premature coronary heart disease (CHD). Over a thousand low-frequency variants in Methods: We examined the individual and collective association between putatively pathogenic FH variants included on the MVP biobank array and the maximum LDL-C level over an interval of 15 years (maxLDL). We assessed the collective effect on clinical outcomes by leveraging data from 61.7 million clinical encounters. Results: We found 8 out of 16 putatively pathogenic FH variants with ≥30 observed carriers to be significantly associated with elevated maxLDL (9.4-80.2 mg/dL). Phenotypic effects were similar for European and African Americans despite substantial differences in carrier frequencies. Based on observed effects on maxLDL, we identified a total of 748 carriers (1:443) who had elevated maxLDL (36.5±1.4 mg/dL, p=1.2×10 Conclusions: The distribution and phenotypic effects of putatively pathogenic FH variants were heterogeneous within and across variants. More robust evidence of genotype-phenotype associations of FH variants in multi-ethnic populations is needed to accurately infer at-risk individuals from genetic screening.
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