ArticleCirculation. Genomic and precision medicine2020
Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.
Article in Circulation. Genomic and precision medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 65 citations in OpenAlex.
- Decoding Primary Hyperlipoproteinemias: A Focus on the Pathogenesis and Diagnosis of Familial Hypercholesterolemia and Familial Combined Hyperlipidemia.Diagnostics (Basel, Switzerland) · 2026Review
- Review
- Presumed Mechanisms Underlying Lipoprotein(a)-caused Atherosclerosis.European cardiology · 2026Review
- Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.CJC open · 2025Article
- Article
- Influence of Polygenic Risk on Height and BMI in Adults With a 22q11.2 Microdeletion.Journal of the Endocrine Society · 2025Article
- Genetic Determinants of the Familial Hypercholesterolaemia Phenotype.Annals of human genetics · 2025Review
- 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
- A strategy to increase identification of patients with Familial Hypercholesterolemia: Application of the Simon Broome lipid criteria in a large-scale retrospective analysis.American journal of preventive cardiology · 2025Article
- Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- Cross-ancestry genetic architecture and prediction for cholesterol traits.Human genetics · 2024Article
- Lipoprotein(a) in Familial Hypercholesterolemia.CJC open · 2024Article
- Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.PloS one · 2024Article
- Causal Associations of Environmental Pollution and Cardiovascular Disease: A Two-Sample Mendelian Randomization Study.Global heart · 2024Article
- International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.Nature reviews. Cardiology · 2023Review
- Polygenic risk for triglyceride levels in the presence of a high impact rare variant.BMC medical genomics · 2023Article
- 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.European heart journal · 2023Article
- Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.International journal of molecular sciences · 2023Review
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
backgroundFamilial hypercholesterolemia (FH) is a common autosomal codominant genetic disorder, which causes elevated levels of low-density lipoprotein cholesterol (LDL-C) and increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Even among individuals with monogenic FH, there is substantial interindividual variability in LDL-C levels and risk of ASCVD. We assessed the influence of an LDL-C polygenic score on levels of LDL-C and risk of ASCVD for individuals with monogenic FH.
methodsWe constructed a weighted LDL-C polygenic score, composed of 28 single-nucleotide variants, for individuals with monogenic FH from the British Columbia FH (n=262); Nutrition, Metabolism and Atherosclerosis Clinic (n=552); and UK Biobank cohorts (n=306). We assessed the association between LDL-C polygenic score with LDL-C levels and ASCVD risk using linear regression and Cox-proportional hazard models, respectively. ASCVD was defined as myocardial infarction, coronary or carotid revascularization, transient ischemic attack, or stroke. The results from individual cohorts were combined in fixed-effect meta-analyses.
resultsLevels of LDL-C were significantly associated with LDL-C polygenic score in the Nutrition, Metabolism and Atherosclerosis Clinic cohort, UK Biobank cohort, and in the meta-analysis (β [95% CI]=0.13 [0.072-0.19] per a 20% increase in LDL-C polygenic score percentile,
conclusionsPolygenic contributions to LDL-C explain some of the heterogeneity in clinical presentation and ASCVD risk for individuals with FH.
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