ArticleJournal of lipid research2015
Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.
Article in Journal of lipid research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study.PloS one · 2026Article
- Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease.BMC cardiovascular disorders · 2024Article
- Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.International journal of molecular sciences · 2022Article
- Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2022Article
- The design and rationale of the Advancing Cardiac Care Unit-based Rapid Assessment and Treatment of hypErcholesterolemia (ACCURATE) study.American heart journal plus : cardiology research and practice · 2022Article
- Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.Nature communications · 2020Article
- CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.Scientific reports · 2019Article
- Genetics, Dyslipidemia, and Cardiovascular Disease: New Insights.Current cardiology reports · 2019Review
- CETP genetic variant rs1800777 (allele A) is associated with abnormally low HDL-C levels and increased risk of AKI during sepsis.Scientific reports · 2018Article
- Large-scale deletions of theJournal of lipid research · 2018Article
- NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Current medicinal chemistry · 2018Review
- HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.Nature reviews. Cardiology · 2018Review
- Polygenic determinants in extremes of high-density lipoprotein cholesterol.Journal of lipid research · 2017Article
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Authors and funding
15 authors.
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Abstract
A low level of HDL cholesterol (HDL-C) is a common clinical scenario and an important marker for increased cardiovascular risk. Many patients with very low or very high HDL-C have a rare mutation in one of several genes, but identification of the molecular abnormality in patients with extreme HDL-C is rarely performed in clinical practice. We investigated the accuracy and diagnostic yield of a targeted next-generation sequencing (NGS) assay for extreme levels of HDL-C. We developed a targeted NGS panel to capture the exons, intron/exon boundaries, and untranslated regions of 26 genes with highly penetrant effects on plasma lipid levels. We sequenced 141 patients with extreme HDL-C levels and prioritized variants in accordance with medical genetics guidelines. We identified 35 pathogenic and probably pathogenic variants in HDL genes, including 21 novel variants, and performed functional validation on a subset of these. Overall, a molecular diagnosis was established in 35.9% of patients with low HDL-C and 5.2% with high HDL-C, and all prioritized variants identified by NGS were confirmed by Sanger sequencing. Our results suggest that a molecular diagnosis can be identified in a substantial proportion of patients with low HDL-C using targeted NGS.
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