ArticleCirculation. Genomic and precision medicine2019
Rare Protein-Truncating Variants in APOB, Lower Low-Density Lipoprotein Cholesterol, and Protection Against Coronary Heart Disease.
Article in Circulation. Genomic and precision medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 70 citations in OpenAlex.
- Genetic Assessment and Clinical Correlates in Severe Hypertriglyceridemia: A Systematic Review.Genes · 2025Pooled it
- Protective lipid-lowering variants in healthy older individuals without coronary heart disease.Open heart · 2021Trial
- Hypocholesterolemia in liver and cardiovascular disease: Friend or foe?Journal of internal medicine · 2026Review
- Individuals who deviate from polygenic expectation are enriched for damaging variants in genes linked to rare disease.American journal of human genetics · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Low Cholesterol due to APOB Variants: Exploring the Balance Between Liver and Cardiovascular Risk.Liver international : official journal of the International Association for the Study of the Liver · 2026Article
- Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease.medRxiv : the preprint server for health sciences · 2025Article
- Current and Emerging Issues in Familial Hypobetalipoproteinemia-related Steatotic Liver Diseases.Journal of clinical and translational hepatology · 2025Review
- TransferTWAS: A transfer learning framework for cross-tissue transcriptome-wide association study.American journal of human genetics · 2025Article
- Accurate human genome analysis with element avidity sequencing.BMC bioinformatics · 2025Article
- Epigenome-wide mediation analysis of the relationship between psychosocial stress and cardiometabolic risk factors in the Health and Retirement Study (HRS).Clinical epigenetics · 2024Article
- Current Diagnosis and Management of Familial Hypobetalipoproteinemia 1.Journal of atherosclerosis and thrombosis · 2024Review
- ApoB100 and Atherosclerosis: What's New in the 21st Century?Metabolites · 2024Review
- Cholesterol Contributes to Risk, Severity, and Machine Learning-Driven Diagnosis of Lyme Disease.Clinical infectious diseases : an official publication of the Infectious Diseases Society of America · 2023Article
- Finding Clues to Protect Against Coronary Atherosclerosis via Traditional Risk Factors.Journal of atherosclerosis and thrombosis · 2023Article
- Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease.Circulation. Genomic and precision medicine · 2022Article
- Whole genome sequence analysis of blood lipid levels in >66,000 individuals.Nature communications · 2022Article
- Novel protein-truncating variant in theAtherosclerosis plus · 2022Article
- Article
- Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank.Nature genetics · 2022Article
Corrections and comments
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Authors and funding
26 authors at 3 institutions in 2 countries.
Funding
Abstract
Background Familial hypobetalipoproteinemia is a genetic disorder caused by rare protein-truncating variants (PTV) in the gene encoding APOB (apolipoprotein B), the major protein component of LDL (low-density lipoprotein) and triglyceride-rich lipoprotein particles. Whether heterozygous APOB deficiency is associated with decreased risk for coronary heart disease (CHD) is uncertain. We combined family-based and large scale gene-sequencing to characterize the association of rare PTVs in APOB with circulating LDL-C (LDL cholesterol), triglycerides, and risk for CHD. Methods We sequenced the APOB gene in 29 Japanese hypobetalipoproteinemia families, as well as 57 973 individuals derived from 12 CHD case-control studies-18 442 with early-onset CHD and 39 531 controls. We defined PTVs as variants that lead to a premature stop, disrupt canonical splice-sites, or lead to insertions/deletions that shift reading frame. We tested the association of rare APOB PTV carrier status with blood lipid levels and CHD. Results Among 29 familial hypobetalipoproteinemia families, 8 families harbored APOB PTVs. Carrying 1 APOB PTV was associated with 55 mg/dL lower LDL-C ( P=3×10
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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.