Varaico: Literature-Extracted Genetic Variants

Gene:CETP
Variant:p.A390P
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CETP

NM_000078.3:p.A390P

Associated Papers

Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.

Ølnes ÅS et al.

Plos One, 2023

Transethnic meta-analysis of exome-wide variants identifies new loci associated with male-specific metabolic syndrome.

Lee HS et al.

Genes & Genomics, 2022

Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.

Nordestgaard LT et al.

Jama Cardiology, 2022

Low High-Density Lipoprotein Cholesterol and High White Blood Cell Counts: A Mendelian Randomization Study.

Harsløf M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

Identification and characterization of a rare variant in apolipoprotein A-IV, p.(V336M), and evaluation of HDL functionality in a Greek cohort with extreme HDL cholesterol levels.

Chroni A et al.

Archives of Biochemistry and Biophysics, 2020

The influence of rare variants in circulating metabolic biomarkers.

Riveros-Mckay F et al.

Plos Genetics, 2020

32150548 (PubMed )
Supplement: pgen.1008605.s004.xlsx › Supp_Table_1

Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Khetarpal SA et al.

Circulation. Genomic and Precision Medicine, 2018

New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

Lee HS et al.

Scientific Reports, 2018

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease.

Peloso GM et al.

Alzheimer's & Dementia (amsterdam, Netherlands), 2018

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

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_S6

Low-frequency coding variants in CETP and CFB are associated with susceptibility of exudative age-related macular degeneration in the Japanese population.

Momozawa Y et al.

Human Molecular Genetics, 2016

Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels.

Pirim D et al.

Metabolism: Clinical and Experimental, 2016

New loci and coding variants confer risk for age-related macular degeneration in East Asians.

Cheng CY et al.

Nature Communications, 2015

Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.

Vigna GB et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2014

Genome-wide family-based linkage analysis of exome chip variants and cardiometabolic risk.

Hellwege JN et al.

Genetic Epidemiology, 2014

Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.

Holmen OL et al.

Nature Genetics, 2014

A unified framework for detecting rare variant quantitative trait associations in pedigree and unrelated individuals via sequence data.

Liu DJ et al.

Human Heredity, 2012

Power of deep, all-exon resequencing for discovery of human trait genes.

Kryukov GV et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.

Spirin V et al.

American Journal of Human Genetics, 2007

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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."