Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.G185C
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APOA5

NM_001371904.1:p.G185C

Associated Papers

Association of HindIII Polymorphism of the Lipoprotein Lipase (LPL) Gene (rs320) and Plasma Metabolic Parameters in a Nigerian Population.

Faleti JO et al.

Biochemical Genetics, 2026

Reversibly reduced lipoprotein lipase in APOA5 c.553G>T-related hypertriglyceridemia successfully treated with pemafibrate.

Miyauchi S et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2026

Uncovering rare somatic variants in olfactory receptor genes in Pakistani triple-negative breast cancer patients.

Shawana S et al.

Bmc Cancer, 2025

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Genetic Factors Associated With Myocardial Infarction in Saudi Arabia.

Saeed A et al.

Journal of the Saudi Heart Association, 2025

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

Association of APOA5 rs2075291 and CIDEB rs2144492 polymorphisms with hypertriglyceridemia in individuals with traditional Chinese medicine dampness syndrome: a case-control study.

Liu N et al.

Frontiers in Genetics, 2025

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

39234690 (PubMed )
Supplement: atv-44-2334-s001.pdf

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST5_GWAS_Loci_BBJ_NCGG

APOA5 deficiency causes hypertriglyceridemia by reducing amounts of lipoprotein lipase in capillaries.

Yang Y et al.

Journal of Lipid Research, 2024

Monogenic hypertriglyceridemia and recurrent pancreatitis in a homozygous carrier of a rare APOA5 mutation: a case report.

Makhmudova U et al.

Journal of Medical Case Reports, 2024

Association between APOA5 polymorphisms and susceptibility to metabolic syndrome: a systematic review and meta-analysis.

Mozafari S et al.

Bmc Genomics, 2024

Genetic and biochemical analysis of severe hypertriglyceridemia complicated with acute pancreatitis or with low post-heparin lipoprotein lipase mass.

Suzuki T et al.

Endocrine Journal, 2024

Carboxyl-terminal sequences in APOA5 are important for suppressing ANGPTL3/8 activity.

Chen YQ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Familial chylomicronemia syndrome: case reports of siblings with deletions of the GPIHBP1 gene.

Kim KY et al.

Bmc Endocrine Disorders, 2024

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

The pathogenic mutations of APOA5 in Chinese patients with hyperlipidemic acute pancreatitis.

Liu Y et al.

Lipids in Health and Disease, 2024

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.

Butnariu LI et al.

Diagnostics (basel, Switzerland), 2023

Lipid-Related Genetic Variants for Personalized Dietary Interventions: A Systematic Review.

Rivera-Íñiguez I et al.

Molecular Nutrition & Food Research, 2023

Effect of genetic variations in drug transporters, metabolizing enzyme and regulatory genes on the development of HIV-associated lipodystrophy.

Shyamveer et al.

The Journal of Gene Medicine, 2023

Comprehensive in-silico analysis of deleterious SNPs in APOC2 and APOA5 and their differential expression in cancer and cardiovascular diseases conditions.

Deng H et al.

Genomics, 2023

Comparison of the structure-function properties of wild-type human apoA-V and a C-terminal truncation associated with elevated plasma triglycerides.

Stankov S et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

Investigation of associations between apolipoprotein A5 and C3 gene polymorphisms with plasma triglyceride and lipid levels.

Taşkin E et al.

Revista Da Associacao Medica Brasileira (1992), 2023

Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis.

Fujita S et al.

Endocrine Journal, 2022

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencing.

Chen S et al.

Human Genomics, 2022

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

Genetics and regulation of HDL metabolism.

Kardassis D et al.

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

Chylomicronemia through a burr hole: A case report.

Loh WJ et al.

Frontiers in Cardiovascular Medicine, 2022

Digenic Inheritance and Gene-Environment Interaction in a Patient With Hypertriglyceridemia and Acute Pancreatitis.

Yang Q et al.

Frontiers in Genetics, 2021

Coronary Artery Disease: Association Study of 5 Loci with Angiographic Indices of Disease Severity.

Bogari NM et al.

Disease Markers, 2021

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Association of Candidate Gene Polymorphism with Metabolic Syndrome among Mongolian Subjects: A Case-Control Study.

Chuluun-Erdene A et al.

Medical Sciences (basel, Switzerland), 2020

Proprotein convertase 7 (PCSK7) reduces apoA-V levels.

Ashraf Y et al.

The Febs Journal, 2020

Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.

Han P et al.

Journal of Cellular and Molecular Medicine, 2020

Pharmacogenetics of statins treatment: Efficacy and safety.

Guan ZW et al.

Journal of Clinical Pharmacy and Therapeutics, 2019

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf

Exome chip-driven association study of lipidemia in >14,000 Koreans and evaluation of genetic effect on identified variants between different ethnic groups.

Han S et al.

Genetic Epidemiology, 2019

Association of BUD13-ZNF259-APOA5-APOA1-SIK3 cluster polymorphism in 11q23.3 and structure of APOA5 with increased plasma triglyceride levels in a Korean population.

Kim HK et al.

Scientific Reports, 2019

A genetic variant c.553G > T (rs2075291) in the apolipoprotein A5 gene is associated with altered triglycerides levels in coronary artery disease (CAD) patients with lipid lowering drug.

Bogari NM et al.

Bmc Cardiovascular Disorders, 2019

Identification of 12 novel loci that confer susceptibility to early-onset dyslipidemia.

Yamada Y et al.

International Journal of Molecular Medicine, 2019

Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Jin JL et al.

Ebiomedicine, 2018

Analysis of causal effect of APOA5 variants on premature coronary artery disease.

Wang F et al.

Annals of Human Genetics, 2018

Apolipoprotein A5 gene variants are associated with decreased adiponectin levels and increased arterial stiffness in subjects with low high-density lipoprotein-cholesterol levels.

Kim M et al.

Clinical Genetics, 2018

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

Zhou Y et al.

Journal of Lipid Research, 2018

30076208 (PubMed )
Supplement: 10.1194_P086710_jlr.P086710-4.xlsx › Other_APO_genes

The "T" allele of apolipoprotein A5 rs2075291 is significantly associated with higher total cholesterol and triglyceride and lower high-density lipoprotein cholesterol levels in Asians: a meta-analysis.

Qian X et al.

Nutrition Research (new York, N.y.), 2018

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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."