Observational studyJournal of the American Heart Association2021
Clinical Implications of Monogenic Versus Polygenic Hypercholesterolemia: Long-Term Response to Treatment, Coronary Atherosclerosis Burden, and Cardiovascular Events.
Observational study in Journal of the American Heart Association, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 37 citations in OpenAlex.
- Personalized polygenic profiling based on the genetic architecture of lipid metabolism in the Russian population.Frontiers in cardiovascular medicine · 2026Article
- Universal Screening for Familial Hypercholesterolemia in Preschool Children and Their Families in Slovenia (FH-FAMILIES)-A Protocol for a Study of Four-Stage Screening Program.Journal of personalized medicine · 2025Article
- Review
- Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?Cardiovascular drugs and therapy · 2025Review
- Article
- Clinical and biochemical features of atherogenic hyperlipidemias with different genetic basis: A comprehensive comparative study.PloS one · 2024Article
- Applying polygenic risk score methods to pharmacogenomics GWAS: challenges and opportunities.Briefings in bioinformatics · 2023Article
- Real-World Effectiveness of PCSK9 Inhibitors in Reducing LDL-C in Patients With Familial Hypercholesterolemia in Italy: A Retrospective Cohort Study Based on the AIFA Monitoring Registries.Journal of the American Heart Association · 2023Article
- Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.Journal of clinical medicine · 2023Article
- Familial Hypercholesterolemia: Pitfalls and Challenges in Diagnosis and Treatment.Reviews in cardiovascular medicine · 2023Review
- 2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.European heart journal · 2023Article
- AIMedGraph: a comprehensive multi-relational knowledge graph for precision medicine.Database : the journal of biological databases and curation · 2023Article
- Painful and recurring injection site reaction to alirocumab and evolocumab in a young woman with familial hypercholesterolemia and effective therapeutic alternative based on inclisiran: a case report.Frontiers in cardiovascular medicine · 2023Article
- Application of next generation sequencing in cardiology: current and future precision medicine implications.Frontiers in cardiovascular medicine · 2023Review
- Subclinical atherosclerosis determined by coronary artery calcium deposition in patients with clinical familial hypercholesterolemia.Atherosclerosis plus · 2022Article
- The Clinical Importance of Differentiating Monogenic Familial Hypercholesterolemia from Polygenic Hypercholesterolemia.Current cardiology reports · 2022Review
- Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort.Atherosclerosis plus · 2022Article
- How Can We Identify Very High-Risk Heterozygous Familial Hypercholesterolemia?Journal of atherosclerosis and thrombosis · 2022Review
- Monogenic Versus Polygenic Forms of Hypercholesterolemia and Cardiovascular Risk: Are There Any Differences?Current atherosclerosis reports · 2022Review
- Twelve Variants Polygenic Score for Low-Density Lipoprotein Cholesterol Distribution in a Large Cohort of Patients With Clinically Diagnosed Familial Hypercholesterolemia With or Without Causative Mutations.Journal of the American Heart Association · 2022Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background Familial hypercholesterolemia (FH) may arise from deleterious monogenic variants in FH-causing genes as well as from a polygenic cause. We evaluated the relationships between monogenic FH and polygenic hypercholesterolemia in influencing the long-term response to therapy and the risk of atherosclerosis. Methods and Results A cohort of 370 patients with clinically diagnosed FH were screened for monogenic mutations and a low-density lipoprotein-rising genetic risk score >0.69 to identify polygenic cause. Medical records were reviewed to estimate the response to lipid-lowering therapies and the occurrence of major atherosclerotic cardiovascular events during a median follow-up of 31.0 months. A subgroup of patients (n=119) also underwent coronary computed tomographic angiography for the evaluation of coronary artery calcium score and severity of coronary stenosis as compared with 135 controls. Two hundred nine (56.5%) patients with hypercholesterolemia were classified as monogenic (FH/M+), 89 (24.1%) as polygenic, and 72 (19.5%) genetically undefined (FH/M-). The response to lipid-lowering therapy was poorest in monogenic, whereas it was comparable in patients with polygenic hypercholesterolemia and genetically undetermined. Mean coronary artery calcium score and the prevalence of coronary artery calcium >100 units were significantly higher in FH/M+ as compared with both FH/M- and controls. Finally, after adjustments for confounders, we observed a 5-fold higher risk of incident major atherosclerotic cardiovascular events in FH/M+ (hazard ratio, 4.8; 95% CI, 1.06-21.36;
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.