Varaico: Literature-Extracted Genetic Variants

Gene:ANGPTL8
Variant:p.R59W
Back to variants list

ANGPTL8

NM_018687.7:p.R59W

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

The Proinflammatory Role of ANGPTL8 R59W Variant in Modulating Inflammation through NF-κB Signaling Pathway under TNFα Stimulation.

Abu-Farha M et al.

Cells, 2023

Targeted Metabolomics Analysis of Individuals Carrying the ANGPTL8 R59W Variant.

Abu-Farha M et al.

Metabolites, 2023

Genetic Mimicry Analysis Reveals the Specific Lipases Targeted by the ANGPTL3-ANGPTL8 Complex and ANGPTL4.

Landfors F et al.

Journal of Lipid Research, 2023

Genetic and Metabolic Determinants of Plasma Levels of ANGPTL8.

Oldoni F et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nielsen JB et al.

Nature Communications, 2020

33339817 (PubMed )
Supplement: 41467_2020_20086_MOESM4_ESM.xlsx › Data_S12

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

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

ANGPTL8 Gene Polymorphism rs2278426 Is Related to Carotid Intima-Media Thickness in T2DM.

Guo C et al.

Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020

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

Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia.

Tarugi P et al.

Journal of Biomedical Research, 2019

Association between rs2278426 (C/T) and rs892066 (C/G) variants of ANGPTL8 (betatrophin) and susceptibility to type2 diabetes mellitus.

Ghasemi H et al.

Journal of Clinical Laboratory Analysis, 2019

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.

Natarajan P et al.

Nature Communications, 2018

30140000 (PubMed )
Supplement: 41467_2018_5747_MOESM1_ESM.pdf

Interaction between endothelial nitric oxide synthase rs1799983, cholesteryl ester-transfer protein rs708272 and angiopoietin-like protein 8 rs2278426 gene variants highly elevates the risk of type 2 diabetes mellitus and cardiovascular disease.

El-Lebedy D

Cardiovascular Diabetology, 2018

Trans-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the ANGPTL8 HDL-C GWAS Locus.

Cannon ME et al.

G3 (bethesda, Md.), 2017

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

Science (new York, N.y.), 2016

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S5

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

The Arg59Trp variant in ANGPTL8 (betatrophin) is associated with total and HDL-cholesterol in American Indians and Mexican Americans and differentially affects cleavage of ANGPTL3.

Hanson RL et al.

Molecular Genetics and Metabolism, 2016

ANGPTL8/Betatrophin R59W variant is associated with higher glucose level in non-diabetic Arabs living in Kuwaits.

Abu-Farha M et al.

Lipids in Health and Disease, 2016

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

Peloso GM et al.

American Journal of Human Genetics, 2014

Atypical angiopoietin-like protein that regulates ANGPTL3.

Quagliarini F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2012

High frequency of type 2 diabetes and impaired glucose tolerance in Japanese subjects with the angiopoietin-like protein 8 R59W variant.

Liu J et al.

Journal of Clinical Lipidology, 0

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."