ArticleJournal of lipid research2017
Polygenic determinants in extremes of high-density lipoprotein cholesterol.
Article in Journal of lipid research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- The influence of rare variants in circulating metabolic biomarkers.PLoS genetics · 2020Pooled it
- Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.BMC medical genomics · 2020Trial
- Pathway-Based Genetic Risk Scores Are Associated with Blood Lipids Among Young Mexican Adults.Nutrients · 2026Article
- Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study.PloS one · 2026Article
- The breadth and impact of the Global Lipids Genetics Consortium.Current opinion in lipidology · 2025Review
- Article
- Independent and combined associations of high-density lipoprotein cholesterol-modified triglyceride-glucose index with all-cause and cardiovascular mortality in patients with acute decompensated heart failure.Frontiers in endocrinology · 2025Article
- Association of non-high-density lipoprotein to high-density lipoprotein ratio (NHHR) with prognosis in cancer survivors: a population-based study in the United States.Frontiers in nutrition · 2024Article
- A decreased level of high-density lipoprotein is a possible risk factor for type 2 diabetes mellitus: A review.Health science reports · 2023Article
- High-density lipoprotein revisited: biological functions and clinical relevance.European heart journal · 2023Review
- Very low HDL levels: clinical assessment and management.Archives of endocrinology and metabolism · 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
- The dawn of a new era of targeted lipid-lowering therapies.European heart journal · 2022Review
- A Modern Approach to Dyslipidemia.Endocrine reviews · 2022Article
- Is a High HDL-Cholesterol Level Always Beneficial?Biomedicines · 2021Review
- Review
- Case Report: Identification of a Novel Homozygous Mutation inFrontiers in genetics · 2021Article
- High-Density Lipoprotein Cholesterol and the Risk of Myocardial Infarction, Stroke, and Cause-Specific Mortality: a Nationwide Cohort Study in Korea.Journal of lipid and atherosclerosis · 2021Article
- Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.Journal of lipid research · 2021Article
- PartialJournal of lipid research · 2019Article
Corrections and comments
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Authors and funding
14 authors.
Funding
Abstract
HDL cholesterol (HDL-C) remains a superior biochemical predictor of CVD risk, but its genetic basis is incompletely defined. In patients with extreme HDL-C concentrations, we concurrently evaluated the contributions of multiple large- and small-effect genetic variants. In a discovery cohort of 255 unrelated lipid clinic patients with extreme HDL-C levels, we used a targeted next-generation sequencing panel to evaluate rare variants in known HDL metabolism genes, simultaneously with common variants bundled into a polygenic trait score. Two additional cohorts were used for validation and included 1,746 individuals from the Montréal Heart Institute Biobank and 1,048 individuals from the University of Pennsylvania. Findings were consistent between cohorts: we found rare heterozygous large-effect variants in 18.7% and 10.9% of low- and high-HDL-C patients, respectively. We also found common variant accumulation, indicated by extreme polygenic trait scores, in an additional 12.8% and 19.3% of overall cases of low- and high-HDL-C extremes, respectively. Thus, the genetic basis of extreme HDL-C concentrations encountered clinically is frequently polygenic, with contributions from both rare large-effect and common small-effect variants. Multiple types of genetic variants should be considered as contributing factors in patients with extreme dyslipidemia.
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Registered trials
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.