ArticleMolecular genetics & genomic medicine2020
A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 16 citations in OpenAlex.
- Genome-wide association study identifies novel and confirms established loci associated with serum lipids levels in Brazilians.Human genetics · 2026Article
- Prevalence of Severe Hypercholesterolemia and Familial Hypercholesterolemia Phenotype in Patients with Acute Coronary Syndrome.Medicina (Kaunas, Lithuania) · 2025Article
- Local genetic covariance analysis with lipid traits identifies novel loci for early-onset Alzheimer's Disease.PLoS genetics · 2025Article
- Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters.Biomedicines · 2024Article
- An 8-SNP LDL Cholesterol Polygenic Score: Associations with Cardiovascular Risk Traits, Familial Hypercholesterolemia Phenotype, and Premature Coronary Heart Disease in Central Romania.International journal of molecular sciences · 2024Article
- Article
- A polygenic biomarker to identify patients with severe hypercholesterolemia of polygenic origin.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundSevere hypercholesterolemia (HC, LDL-C > 4.9 mmol/L) affects over 30 million people worldwide. In this study, we validated a new polygenic risk score (PRS) for LDL-C.
methodsSummary statistics from the Global Lipid Genome Consortium and genotype data from two large populations were used.
resultsA 36-SNP PRS was generated using data for 2,197 white Americans. In a replication cohort of 4,787 Finns, the PRS was strongly associated with the LDL-C trait and explained 8% of its variability (p = 10
conclusionThe new PRS has a better predictive role in identifying HC of polygenic origin compared to the currently available method and can better stratify patients into diagnostic and therapeutic algorithms.
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Registered trials
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