Varaico: Literature-Extracted Genetic Variants

Gene:APOC3
Variant:p.A43T
Back to variants list

APOC3

NM_000040.3:p.A43T

Associated Papers

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.

Kim YJ et al.

Nature Communications, 2022

Gain-of-Function Variants in Lipid Genes Enhance Biological Insight and Point Toward Therapeutic Opportunities.

Stankov S et al.

Circulation, 2022

Genetics and regulation of HDL metabolism.

Kardassis D et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022

Ethnic differences in ApoC-III concentration and the risk of cardiovascular disease: No evidence for the cardioprotective role of rare/loss of function APOC3 variants in non-Europeans.

Rout M et al.

American Heart Journal Plus : Cardiology Research and Practice, 2022

APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups.

Goyal S et al.

Lipids in Health and Disease, 2021

Low cholesterol syndrome and drug development.

Handhle A et al.

Current Opinion in Cardiology, 2020

Triglycerides and remnant cholesterol associated with risk of aortic valve stenosis: Mendelian randomization in the Copenhagen General Population Study.

Kaltoft M et al.

European Heart Journal, 2020

Metabolic characterisation of disturbances in the APOC3/triglyceride-rich lipoprotein pathway through sample-based recall by genotype.

Corbin LJ et al.

Metabolomics : Official Journal of the Metabolomic Society, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

APOC3 rs2070667 Associates with Serum Triglyceride Profile and Hepatic Inflammation in Nonalcoholic Fatty Liver Disease.

Xu QY et al.

Biomed Research International, 2020

Emerging evidences for the opposite role of apolipoprotein C3 and apolipoprotein A5 in lipid metabolism and coronary artery disease.

Dai W et al.

Lipids in Health and Disease, 2019

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants

Emerging Evidence that ApoC-III Inhibitors Provide Novel Options to Reduce the Residual CVD.

Taskinen MR et al.

Current Atherosclerosis Reports, 2019

Association of Genetically Enhanced Lipoprotein Lipase-Mediated Lipolysis and Low-Density Lipoprotein Cholesterol-Lowering Alleles With Risk of Coronary Disease and Type 2 Diabetes.

Lotta LA et al.

Jama Cardiology, 2018

30326043 (PubMed )
Supplement: jamacardiol-3-957-s001.pdf

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Zhou Y et al.

Journal of Lipid Research, 2018

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Rivas MA et al.

Plos Genetics, 2018

29795570 (PubMed )
Supplement: pgen.1007329.s012.xlsx › Data_File_S3

APOC3 Loss-of-Function Mutations, Remnant Cholesterol, Low-Density Lipoprotein Cholesterol, and Cardiovascular Risk: Mediation- and Meta-Analyses of 137 895 Individuals.

Wulff AB et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2018

29348120 (PubMed )
Supplement: atvb_atvb-2017-310473_supp1.pdf

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Hsueh WC et al.

Circulation. Cardiovascular Genetics, 2017

Searching for the Causal Variants of the Association Between Hypertriglyceridemia and the Genome-Wide Association Studies-Derived Signals? Take a Look in the Native American Populations.

Aguilar-Salinas CA et al.

Circulation. Cardiovascular Genetics, 2017

The impact of APOA5, APOB, APOC3 and ABCA1 gene polymorphisms on ischemic stroke: Evidence from a meta-analysis.

Au A et al.

Atherosclerosis, 2017

A human APOC3 missense variant and monoclonal antibody accelerate apoC-III clearance and lower triglyceride-rich lipoprotein levels.

Khetarpal SA et al.

Nature Medicine, 2017

Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.

Auer PL et al.

American Journal of Human Genetics, 2016

Targeting ApoC-III to Reduce Coronary Disease Risk.

Khetarpal SA et al.

Current Atherosclerosis Reports, 2016

Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation.

Gilly A et al.

Human Molecular Genetics, 2016

What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Jeff JM et al.

Current Opinion in Lipidology, 2016

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Association of APOC3 Loss-of-Function Mutations With Plasma Lipids and Subclinical Atherosclerosis: The Multi-Ethnic BioImage Study.

Natarajan P et al.

Journal of the American College of Cardiology, 2015

Genetics. APOC3 mutations lower CVD risk.

Geach T

Nature Reviews. Cardiology, 2014

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

Crosby J et al.

The New England Journal of Medicine, 2014

Loss-of-function mutations in APOC3 and risk of ischemic vascular disease.

Jørgensen AB et al.

The New England Journal of Medicine, 2014

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families.

Bochem AE et al.

Clinical Genetics, 2014

APOC3 may not be a predictor of risk of ischemic vascular disease in the Chinese population.

Tang L et al.

F1000research, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."