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ApoC3

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https://www.readbyqxmd.com/read/29595690/a-novel-index-including-snps-for-the-screening-of-nonalcoholic-fatty-liver-disease-among-elder-chinese-a-population-based-study
#1
Huanhuan Yang, Guochong Chen, Chunli Song, Deming Li, Qinghua Ma, Guangliang Chen, Xinli Li
Presently noninvasive methods were employed to the diagnosis of nonalcoholic fatty liver disease (NAFLD), including fatty liver index (FLI), hepatic steatosis index (HSI), product of fasting triglyceride and glucose levels (TyG), and single nucleotide polymorphism (SNP), whereas the accuracy of those indexes need to be improved. Our study aimed to investigate the feasibility of a new index comprehensive index (CI), consisting of 6 serum biomarkers and anthropometric parameters through multivariate logistic regression analysis, to the earlier detection of NAFLD, and the diagnostic value of 5 SNPs (S1: rs2854116 of apolipoprotein C3 [APOC3], S2: rs4149267 of ATP-binding cassette transporter [ABCA1], S3: rs13702 of lipoprotein lipase [LPL], S4: rs738409 of protein 3 [patatin-like phospholipase domain containing protein 3 (PNPLA3)], S5: rs780094 of glucokinase regulatory protein gene [GCKR]) for NAFLD were also explored...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29555504/alantolactone-suppresses-apoc3-expression-and-alters-lipid-homeostasis-in-l02-liver-cells
#2
Meiting Yang, Hanhan Zhao, Huihan Ai, Hongbin Zhu, Shuyue Wang, Yongli Bao, Yuxin Li
A high level of APOC3 expression is an independent risk factor for some lipid metabolism-related diseases, such as cardiovascular disease (CVD), nonalcoholic fatty liver disease (NAFLD) and atherosclerosis (AS). This suggests that down-regulating APOC3 expression is a potential way of regulating lipid levels. In this study, we used luciferase reporter screening to identify a natural compound, alantolactone (ALA), that can inhibit the promoter activity of APOC3. ALA decreased APOC3 expression at both mRNA and protein levels...
March 16, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29547399/apolipoprotein-c-iii-in-triglyceride-rich-lipoprotein-metabolism
#3
Bastian Ramms, Philip L S M Gordts
PURPOSE OF REVIEW: Apolipoprotein (apo) C-III is a key player in triglyceride-rich lipoprotein metabolism and strongly associated with elevated plasma triglyceride levels. Several new studies added important insights on apoC-III and its physiological function confirming its promise as a valid therapeutic target. RECENT FINDINGS: APOC3 is expressed in liver and intestine and regulates triglyceride-rich lipoprotein (TRL) catabolism and anabolism. The transcriptional regulation in both organs requires different regulatory elements...
March 15, 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29417937/advances-in-lipid-lowering-therapy-through-gene-silencing-technologies
#4
REVIEW
Børge G Nordestgaard, Stephen J Nicholls, Anne Langsted, Kausik K Ray, Anne Tybjærg-Hansen
New treatment opportunities are emerging in the field of lipid-lowering therapy through gene-silencing approaches. Both antisense oligonucleotide inhibition and small interfering RNA technology aim to degrade gene mRNA transcripts to reduce protein production and plasma lipoprotein levels. Elevated levels of LDL, remnant lipoproteins, and lipoprotein(a) all cause cardiovascular disease, whereas elevated levels of triglyceride-rich lipoproteins in some patients can cause acute pancreatitis. The levels of each of these lipoproteins can be reduced using gene-silencing therapies by targeting proteins that have an important role in lipoprotein production or removal (for example, the protein products of ANGPTL3, APOB, APOC3, LPA, and PCSK9)...
February 8, 2018: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/29412239/association-of-multiple-genetic-variants-with-the-extension-and-severity-of-coronary-artery-disease
#5
Simone Cristina Pinto Matheus Fischer, Simone Pires Pinto, Lívia Campos do Amaral Silva Lins, Henrique Tria Bianco, Carlos Manoel de Castro Monteiro, Luiz Fernando Muniz Pinheiro, Francisco Antonio Helfenstein Fonseca, Maria Cristina de Oliveira Izar
BACKGROUND: Metabolic syndrome (MS) is a condition that, when associated with ischemic heart disease and cardiovascular events, can be influenced by genetic variants and determine more severe coronary atherosclerosis. OBJECTIVES: To examine the contribution of genetic polymorphisms to the extension and severity of coronary disease in subjects with MS and recent acute coronary syndrome (ACS). METHODS: Patients (n = 116, 68% males) aged 56 (9) years, with criteria for MS, were prospectively enrolled to the study during the hospitalization period after an ACS...
February 1, 2018: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/29366243/targeted-sequencing-of-apoc3-gckr-lipa-ppp1r3b-ncan-lyplal1-and-tm6sf2-genes-in-patients-with-nonalcoholic-fatty-liver-disease-nafld
#6
Alessia Di Costanzo, Francesca Belardinilli, Diego Bailetti, Marialuisa Sponziello, Laura D'Erasmo, Licia Polimeni, Francesco Baratta, Maria Del Ben, Giuseppe Giannini, Francesco Angelico, Marcello Arca
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29348120/-apoc3-loss-of-function-mutations-remnant-cholesterol-low-density-lipoprotein-cholesterol-and-cardiovascular-risk-mediation-and-meta-analyses-of-137-895-individuals
#7
Anders B Wulff, Børge G Nordestgaard, Anne Tybjærg-Hansen
OBJECTIVE: Loss-of-function mutations in APOC3 associate with low remnant cholesterol levels and low risk of ischemic vascular disease (IVD). Because some studies show an additional association with low levels of low-density lipoprotein cholesterol (LDL-C), low LDL-C may explain the low risk of IVD in APOC3 loss-of-function heterozygotes. We tested to what extent the low risk of IVD in APOC3 loss-of-function heterozygotes is mediated by low plasma remnant cholesterol and LDL-C. APPROACH AND RESULTS: In APOC3 loss-of-function heterozygotes versus noncarriers, we first determined remnant cholesterol and LDL-C levels in meta-analyses of 137 895 individuals...
March 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29301387/pharmacogenetics-of-vascular-risk-factors-in-alzheimer-s-disease
#8
REVIEW
Ramón Cacabelos, Arun Meyyazhagan, Juan C Carril, Pablo Cacabelos, Óscar Teijido
Alzheimer's disease (AD) is a polygenic/complex disorder in which genomic, epigenomic, cerebrovascular, metabolic, and environmental factors converge to define a progressive neurodegenerative phenotype. Pharmacogenetics is a major determinant of therapeutic outcome in AD. Different categories of genes are potentially involved in the pharmacogenetic network responsible for drug efficacy and safety, including pathogenic, mechanistic, metabolic, transporter, and pleiotropic genes. However, most drugs exert pleiotropic effects that are promiscuously regulated for different gene products...
January 3, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/29237685/identity-by-descent-mapping-identifies-major-locus-for-serum-triglycerides-in-amerindians-largely-explained-by-an-apoc3-founder-mutation
#9
Wen-Chi Hsueh, Anup K Nair, Sayuko Kobes, Peng Chen, Harald H H Göring, Toni I Pollin, Alka Malhotra, William C Knowler, Leslie J Baier, Robert L Hanson
BACKGROUND: Identity-by-descent mapping using empirical estimates of identity-by-descent allele sharing may be useful for studies of complex traits in founder populations, where hidden relationships may augment the inherent genetic information that can be used for localization. METHODS AND RESULTS: Through identity-by-descent mapping, using ≈400 000 single-nucleotide polymorphisms (SNPs), of serum lipid profiles, we identified a major linkage signal for triglycerides in 1007 Pima Indians (LOD=9...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29233637/compound-heterozygous-familial-hypercholesterolemia-in-a-chinese-boy-with-a-de-novo-and-transmitted-low-density-lipoprotein-receptor-mutation
#10
Yizhe Ma, Yingyun Gong, Abhimanyu Garg, Hongwen Zhou
BACKGROUND: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR). OBJECTIVE: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation. METHODS: Detailed family history and clinical and biochemical data were gathered from the pedigree...
January 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29180722/rare-non-coding-variants-are-associated-with-plasma-lipid-traits-in-a-founder-population
#11
Catherine Igartua, Sahar V Mozaffari, Dan L Nicolae, Carole Ober
Founder populations are ideally suited for studies on the clinical effects of alleles that are rare in general populations but occur at higher frequencies in these isolated populations. Whole genome sequencing in 98 Hutterites, a founder population of European descent, and subsequent imputation revealed 660,238 single nucleotide polymorphisms that are rare (<1%) or absent in European populations, but occur at frequencies >1% in the Hutterites. We examined the effects of these rare in European variants on plasma lipid levels in 828 Hutterites and applied a Bayesian hierarchical framework to prioritize potentially causal variants based on functional annotations...
November 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29162127/association-of-the-s2-allele-of-the-ssti-polymorphism-in-the-apoc3-gene-with-plasma-apociii-interacts-with-unfavorable-lipid-profiles-to-contribute-to-atherosclerosis-in-the-li-ethnic-group-in-china
#12
Minzeng Sun, Lin Chen, Hui Liu, Lihui Ma, Tiansong Wang, Yueli Liu
BACKGROUND: The SstI polymorphism in the apolipoprotein 3 gene (apoC3) has been identified in many ethnic groups. In addition, the S2 allele of the SstI polymorphism is shown to be associated with increased plasma triglyceride (TG) levels. Plasma apoCIII is an important atherogenic factor, which interrupts lipid metabolism and is positively associated with plasma TG levels. However, the existence of the SstI polymorphism in the Li ethnic group in China remains to be confirmed. The relationship between the S2 allele of the SstI polymorphism and plasma apoCIII or TG and their roles in atherosclerosis are also unknown...
November 21, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29132372/hepatitis-b-virus-inhibits-the-in-vivo-and-in-vitro-synthesis-and-secretion-of-apolipoprotein-c3
#13
Chengliang Zhu, Hengcheng Zhu, Hui Song, Limin Xu, Longxuan Li, Fang Liu, Xinghui Liu
BACKGROUND: Hepatitis B virus (HBV) infection in the body can damage liver cells and cause disorders in blood lipid metabolism. Apolipoprotein C3 (ApoC3) plays an important role in the regulation of lipid metabolism, but no study on the HBV regulation of ApoC3 has been reported. This purpose of this study was to investigate the effect of HBV on ApoC3 expression and its regulatory mechanism. METHODS: The expression levels of ApoC3 mRNA and protein in the human hepatoma cell lines HepG2 and HepG2...
November 13, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/29096837/the-role-of-antisense-oligonucleotide-therapy-against-apolipoprotein-ciii-in-hypertriglyceridemia
#14
Ioanna Gouni-Berthold
Increased triglyceride levels (higher than ∼1000 mg/dL) are associated with an increased risk for pancreatitis. Apolipoprotein-CIII (apo-CIII) plays a key role in the metabolism of triglycerides and triglyceride-rich lipoproteins. While loss of function mutations in the gene encoding apo-CIII (APOC3) are associated with low triglyceride levels and a decreased risk for cardiovascular disease (CVD), overexpression of APOC3 is associated with hypertriglyceridemia. Although many drugs such as fibrates, statins and omega-3 fatty acids modestly decrease triglyceride levels (and apo-CIII concentrations), there are many patients who still have severe hypertriglyceridemia and are at risk for pancreatitis and potentially CVD...
November 2017: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/29081697/genetic-risk-factors-in-cerebrovascular-disorders-and-cognitive-deterioration
#15
Juan C Carril, Ramón Cacabelos
INTRODUCTION: The study of variations in genes involved in the different events that trigger the atherogenic process, such as lipid metabolism (modification of LDL-cholesterol), endothelial function and hypertension, immune response (recruitment of macrophages and foam cell formation) and stability of atherosclerotic plaques (thrombosis), established the risk for suffering a vascular disorder. A total of 2455 cases over 50 years of age were genotyped for a panel of 19 SNPs in 15 genes encoding for proteins involved in the atherogenic process...
October 2017: Current Genomics
https://www.readbyqxmd.com/read/28948955/factors-affecting-high-density-lipoprotein-cholesterol-in-hiv-infected-patients-on-nevirapine-based-antiretroviral-therapy
#16
C Padmapriyadarsini, K Ramesh, L Sekar, Geetha Ramachandran, Devaraj Reddy, G Narendran, S Sekar, C Chandrasekar, D Anbarasu, Christine Wanke, Soumya Swaminathan
BACKGROUND & OBJECTIVES: Cardiovascular disease (CVD) risk with low high-density lipoprotein cholesterol (HDL-C) and high triglycerides is common in the general population in India. As nevirapine (NVP)-based antiretroviral therapy (ART) tends to increase HDL-C, gene polymorphisms associated with HDL-C metabolism in HIV-infected adults on stable NVP-based ART were studied. METHODS: A cross-sectional study was conducted between January 2013 and July 2014 among adults receiving NVP-based ART for 12-15 months...
May 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28919193/association-analysis-of-genetic-variants-with-metabolic-syndrome-components-in-the-moroccan-population
#17
F Lakbakbi El Yaagoubi, H Charoute, I Morjane, H Sefri, H Rouba, A Ainahi, M Kandil, H Benrahma, A Barakat
This study aimed to analyze the association between UBE2E2, G6PC2, PROX1, DUSP9, ADCY5 and APOC3 polymorphisms and the risk of metabolic syndrome (MetS) in Moroccan patients. The study was applied on 316 unrelated individuals from Morocco, 177 MetS patients and 139 controls. The metabolic syndrome was diagnosed according to the International Diabetes Federation (IDF) criteria. All subjects were genotyped for the following polymorphisms: rs7612463 (UBE2E2), rs560887 (G6PC2), rs340874 (PROX1), rs5945326 (DUSP9), rs11708067 (ADCY5) and rs5128 (APOC3) using TaqMan allelic discrimination assay and PCR-RFLP...
September 11, 2017: Current Research in Translational Medicine
https://www.readbyqxmd.com/read/28915626/hdl-cholesterol-concentration-in-pregnant-chinese-han-women-of-late-second-trimester-associated-with-genetic-variants-in-cetp-abca1-apoc3-and-galnt2
#18
Mingxuan Cui, Wei Li, Liangkun Ma, Fan Ping, Juntao Liu, Xueyan Wu, Jiangfeng Mao, Xi Wang, Min Nie
OBJECTIVE: To investigate whether HDL-C level in pregnant Chinese Han women of late second trimester correlated with loci in high-density lipoprotein-cholesterol (HDL-C)-related genes found in genome-wide association studies (GWAS). METHODS: Seven single-nucleotide polymorphisms (rs3764261 in CETP, rs1532085 in LIPC, rs7241918 in LIPG, rs1883025 in ABCA1, rs4225 in APOC3, rs1059611 in LPL, and rs16851339 in GALNT2) were genotyped using the Sequenom MassArray system for 1,884 pregnant women...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28887372/the-apolipoprotein-c-iii-gln38lys-variant-associated-with-human-hypertriglyceridemia-is-a-gain-of-function-mutation
#19
Meenakshi Sundaram, Kaitlin R Curtis, Mohsen Amir Alipour, Nicholas D LeBlond, Kaitlyn D Margison, Rebecca A Yaworski, Robin J Parks, Adam D McIntyre, Robert A Hegele, Morgan D Fullerton, Zemin Yao
Recent cell culture and animal studies have suggested that expression of human apo C-III in the liver has a profound impact on the triacylglycerol (TAG)-rich VLDL1 production under lipid-rich conditions. The apoC-III Gln38Lys variant was identified in subjects of Mexican origin with moderate hypertriglyceridemia. We postulated that Gln38Lys (C3(QK)), being a gain-of-function mutation, promotes hepatic VLDL1 assembly/secretion. To test this hypothesis, we expressed C3(QK) in McA-RH7777 cells and apoc3-null mice to contrast its effect with WT apoC-III (C3(WT))...
November 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28865324/the-impact-of-apoa5-apob-apoc3-and-abca1-gene-polymorphisms-on-ischemic-stroke-evidence-from-a-meta-analysis
#20
Anthony Au, Lyn R Griffiths, Looi Irene, Cheah Wee Kooi, Loo Keat Wei
BACKGROUND AND AIMS: Genetic studies have been reported on the association between APOA5, APOB, APOC3 and ABCA1 gene polymorphisms and ischemic stroke, but results remain controversial. Hence, this meta-analysis aimed to infer the causal relationships of APOA5 (rs662799, rs3135506), APOB (rs693, rs1042031, rs1801701), APOC3 (rs4520, rs5128, rs2854116, rs2854117) and ABCA1 rs2230806 with ischemic stroke risk. METHODS: A systematic review was performed for all the articles retrieved from multiple databases, up until March 2017...
August 19, 2017: Atherosclerosis
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