Varaico: Literature-Extracted Genetic Variants

Gene:CETP
Variant:p.D459G
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CETP

NM_000078.3:p.D459G

Associated Papers

Protein-truncating variants of the cholesteryl ester transfer protein gene and risk for coronary artery disease among patients with heterozygous familial hypercholesterolemia.

Tada H et al.

Atherosclerosis, 2025

Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.

Inazu A

Journal of Atherosclerosis and Thrombosis, 2025

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular Disease.

Kalwick M et al.

Nutrients, 2025

Common and rare genetic variation intersects with ancestry to influence human skin and plasma carotenoid concentrations.

Han Y et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

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

Genome-wide association study for metabolic syndrome reveals APOA5 single nucleotide polymorphisms with multilayered effects in Koreans.

Park YJ et al.

Lipids in Health and Disease, 2024

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

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Nagahara K et al.

Journal of Atherosclerosis and Thrombosis, 2022

Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.

Zhou YY et al.

Frontiers in Genetics, 2022

35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R

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

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Identification of germline and somatic mutations in pancreatic adenosquamous carcinoma using whole exome sequencing.

Ma H et al.

Cancer Biomarkers : Section a of Disease Markers, 2020

31958074 (PubMed )
Supplement: sj-xlsx-1-cbm-10.3233_cbm-190236.xlsx › Somatic

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

Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.

Ittisoponpisan S et al.

Journal of the Endocrine Society, 2018

30019023 (PubMed )
Supplement: js.2018-00077.sd2.xls › Sheet1

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

Lee HS et al.

Scientific Reports, 2018

Association of CETP Gene Variants With Risk for Vascular and Nonvascular Diseases Among Chinese Adults.

Millwood IY et al.

Jama Cardiology, 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

Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Tang CS et al.

Nature Communications, 2015

Targeted next-generation sequencing to diagnose disorders of HDL cholesterol.

Sadananda SN et al.

Journal of Lipid Research, 2015

Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia.

Plengpanich W et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013

Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia.

Khovidhunkit W et al.

The American Journal of Cardiology, 2012

High-density lipoprotein (HDL) particle subpopulations in heterozygous cholesteryl ester transfer protein (CETP) deficiency: maintenance of antioxidative activity.

Chantepie S et al.

Plos One, 2012

A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

Tada H et al.

Atherosclerosis, 2011

CETP deficiency due to a novel mutation in the CETP gene promoter and its effect on cholesterol efflux and selective uptake into hepatocytes.

Plengpanich W et al.

Atherosclerosis, 2011

Common single nucleotide polymorphisms in Japanese patients with essential hypertension: aldehyde dehydrogenase 2 gene as a risk factor independent of alcohol consumption.

Hui P et al.

Hypertension Research : Official Journal of the Japanese Society of Hypertension, 2007

Highly multiplexed genotyping of coronary artery disease-associated SNPs using MALDI-TOF mass spectrometry.

Nakai K et al.

Human Mutation, 2002

Effects of hepatic lipase gene promoter nucleotide variations on serum HDL cholesterol concentration in the general Japanese population.

Inazu A et al.

Journal of Human Genetics, 2001

[Cholesteryl ester transfer protein (CETP) deficiency and increased HDL cholesterol levels (hyperalphalipoproteinemia)].

Inazu A et al.

Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996

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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."