Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.V153M
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APOA5

NM_001371904.1:p.V153M

Associated Papers

Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

Genetic variation in apolipoprotein A-V in hypertriglyceridemia.

Perera SD et al.

Current Opinion in Lipidology, 2024

Genomic characteristics and immune landscape of super multiple primary lung cancer.

Yang Z et al.

Ebiomedicine, 2024

38364701 (PubMed )
Supplement: mmc2.xlsx › all_212.somatic.igv_recheck.mut

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

Liu Y et al.

Lipids in Health and Disease, 2024

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

Rivera-Íñiguez I et al.

Molecular Nutrition & Food Research, 2023

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

Fujita S et al.

Endocrine Journal, 2022

Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

Lippi M et al.

Biomolecules, 2022

Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Cukier HN et al.

Npj Parkinson's Disease, 2022

35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman.

Al-Waili K et al.

Frontiers in Genetics, 2022

Genetic Regulatory Networks of Apolipoproteins and Associated Medical Risks.

Basavaraju P et al.

Frontiers in Cardiovascular Medicine, 2021

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

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

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

30420299 (PubMed )
Supplement: mmc1.pdf

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

Wang F et al.

Annals of Human 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.P086710-2.xlsx › GLGC

The Association Between APOA5 Gene Polymorphisms and Plasma Lipids in the Turkish Cypriot Population: A Possible Biomarker for Preventing Cardiovascular Diseases.

Fahrioğlu U et al.

Biochemical Genetics, 2018

Variants of Lipolysis-Related Genes in Korean Patients with Very High Triglycerides.

Lee CJ et al.

Yonsei Medical Journal, 2018

Sequence Analysis of APOA5 Among the Kuwaiti Population Identifies Association of rs2072560, rs2266788, and rs662799 With TG and VLDL Levels.

Jasim AA et al.

Frontiers in Genetics, 2018

Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.

Skarp S et al.

Plos One, 2018

30157244 (PubMed )
Supplement: pone.0203313.s001.xlsx › Family8_SNPs

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

Hypertriglyceridemic acute pancreatitis in emergency department: Typical clinical features and genetic variants.

Chen WJ et al.

Journal of Digestive Diseases, 2017

Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

Tanisawa K et al.

The Journals of Gerontology. Series A, Biological Sciences and Medical Sciences, 2017

27154906 (PubMed )
Supplement: glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx › Table_S2

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Rabacchi C et al.

Atherosclerosis, 2015

Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.

Xie SL et al.

Plos One, 2015

Increased risk of obesity related to total energy intake with the APOA5-1131T > C polymorphism in Korean premenopausal women.

Lim HH et al.

Nutrition Research (new York, N.y.), 2014

Molecular analysis of chylomicronemia in a clinical laboratory setting: diagnosis of 13 cases of lipoprotein lipase deficiency.

Martín-Campos JM et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Clinical response to statins: mechanism(s) of variable activity and adverse effects.

Sirtori CR et al.

Annals of Medicine, 2012

Association of apolipoprotein A5 gene polymorphisms and serum lipid levels.

Li YY et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011

Resequencing the apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia.

Evans D et al.

Atherosclerosis, 2011

Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels.

Yin RX et al.

Plos One, 2011

[Impact of apolipoprotein A5 on cardiovascular risk. Genetic and environmental modulation].

Sotos-Prieto M et al.

Revista Medica De Chile, 2010

A novel APOA5 splicing mutation IVS2+1g>a in a Japanese chylomicronemia patient.

Okubo M et al.

Atherosclerosis, 2009

Impact of apolipoprotein A5 variants on statin treatment efficacy.

Hubacek JA et al.

Pharmacogenomics, 2009

Efficient lowering of triglyceride levels in mice by human apoAV protein variants associated with hypertriglyceridemia.

Vaessen SF et al.

Biochemical and Biophysical Research Communications, 2009

Apolipoprotein A5 in health and disease.

Hubáček JA et al.

Physiological Research, 2009

Genome-wide association analysis of high-density lipoprotein cholesterol in the population-based KORA study sheds new light on intergenic regions.

Heid IM et al.

Circulation. Cardiovascular Genetics, 2008

20031538 (PubMed )
Supplement: supplementary_material_gwa-hdl_revised-final.pdf

An apolipoprotein A-V gene SNP is associated with marked hypertriglyceridemia among Asian-American patients.

Pullinger CR et al.

Journal of Lipid Research, 2008

Apoprotein A-V: an important regulator of triglyceride metabolism.

Kluger M et al.

Journal of Inherited Metabolic Disease, 2008

Apolipoprotein A-V variant (T-1131>C) affects plasma levels of non-high-density lipoprotein cholesterol in Caucasians.

Hubacek JA et al.

Experimental and Clinical Cardiology, 2008

APOA5 variants and metabolic syndrome in Caucasians.

Grallert H et al.

Journal of Lipid Research, 2007

Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).

Wang J et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2007

Genetic determinants of plasma lipoproteins.

Pollex RL et al.

Nature Clinical Practice. Cardiovascular Medicine, 2007

Polymorphisms in the APOA1/C3/A4/A5 gene cluster and cholesterol responsiveness to dietary change.

Hubacek JA et al.

Clinical Chemistry and Laboratory Medicine, 2007

SNPs at the APOA5 gene account for the strong association with hypertriglyceridaemia at the APOA5/A4/C3/A1 locus on chromosome 11q23 in the Northern Irish population.

Wright WT et al.

Atherosclerosis, 2006

Apolipoprotein A-V: a potential modulator of plasma triglyceride levels in Turks.

Hodoglugil U et al.

Journal of Lipid Research, 2006

Determination of the functionality of common APOA5 polymorphisms.

Talmud PJ et al.

The Journal of Biological Chemistry, 2005

Hypertriglyceridemia: interaction between APOE and APOAV variants.

Hubacek JA et al.

Clinical Chemistry, 2005

The effects of scale: variation in the APOA1/C3/A4/A5 gene cluster.

Fullerton SM et al.

Human Genetics, 2004

Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11.

Olivier M et al.

Genomics, 2004

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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."