ArticleJournal of human genetics2021
Polygenic risk scores for low-density lipoprotein cholesterol and familial hypercholesterolemia.
Article in Journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- Polygenic background contributes to GCK-MODY clinical presentation and glycaemic variability.Diabetologia · 2026Article
- Personalized polygenic profiling based on the genetic architecture of lipid metabolism in the Russian population.Frontiers in cardiovascular medicine · 2026Article
- Article
- TheJournal of the Endocrine Society · 2025Article
- Common genetic variants modify disease risk and clinical presentation in monogenic diabetes.Nature metabolism · 2025Article
- Blood Lipid Polygenic Risk Score Development and Application for Atherosclerosis Ultrasound Parameters.Biomedicines · 2024Article
- Oxytocin Receptor Polymorphism Is Associated With Sleep Apnea Symptoms.Journal of the Endocrine Society · 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
- Relationship between coronary artery disease with dyslipidaemia and trace mineral intake: a cross-sectional analysis of the Shika study.Journal of nutritional science · 2024Article
- Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants.Journal of human genetics · 2023Article
- Nutrigenetic Interaction Between Apolipoprotein C3 Polymorphism and Fat Intake in People with Nonalcoholic Fatty Liver Disease.Current developments in nutrition · 2023Article
- Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.Nature communications · 2022Article
- Applicability of polygenic risk scores in endometriosis clinical presentation.BMC women's health · 2022Article
- Association between Vitamin Intake and Chronic Kidney Disease According to a Variant Located Upstream of theNutrients · 2022Article
- Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study.Frontiers in cardiovascular medicine · 2022Article
- Association Between Serum 25-Hydroxyvitamin D Concentrations, CDX2 Polymorphism in Promoter Region of Vitamin D Receptor Gene, and Chronic Pain in Rural Japanese Residents.Journal of pain research · 2022Article
- Genetic Determinants of Plasma Low-Density Lipoprotein Cholesterol Levels: Monogenicity, Polygenicity, and "Missing" Heritability.Biomedicines · 2021Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant monogenic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) and an increased risk of premature coronary artery disease (CAD). Recently, it has been shown that a high polygenic risk score (PRS) could be an independent risk factor for CAD in FH patients of European ancestry. However, it is uncertain whether PRS is also useful for risk stratification of FH patients in East Asia. We recruited and genotyped clinically diagnosed FH (CDFH) patients from the Kanazawa University Mendelian Disease FH registry and controls from the Shikamachi Health Improvement Practice genome cohort in Japan. We calculated PRS from 3.6 million variants of each participant (imputed from the 1000 Genome phase 3 Asian dataset) for LDL-C (PRS
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