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https://www.readbyqxmd.com/read/28948955/factors-affecting-high-density-lipoprotein-cholesterol-in-hiv-infected-patients-on-nevirapine-based-antiretroviral-therapy
#1
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
#2
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
#3
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
#4
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 expression of human apolipoprotein (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 (C3QK), being a gain-of-function mutation, promotes hepatic VLDL1 assembly/secretion. To test this hypothesis, we expressed C3QK in McA-RH7777 cells and apoc3-null mice to contrast its effect with wildtype apoC-III (C3WT)...
September 8, 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
#5
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
https://www.readbyqxmd.com/read/28853084/gene-gene-interactions-of-apolipoprotein-gene-polymorphic-variants-in-adolescents-with-essential-arterial-hypertension-and-dyslipidemia
#6
O V Kalyuzhnaya, T A Bairova, L I Kolesnikova
Using MDR bioinformatic analysis we studied gene-gene interactions between apolipoprotein genes in adolescents with essential arterial hypertension and dyslipidemia against the background of essential arterial hypertension. Optimal models of gene-gene interactions were formed. The six-locus model was the most significant: (ApoA1(+83T), ApoA1(-75A), ApoB(Del), ApoC3(S2), ApoE(ε2), ApoE(ε4). The maximum synergism in both adolescent groups were shown for allele variants ApoA1(-75A), ApoB(Del), and ApoE(ε4)...
August 29, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28825717/a-human-apoc3-missense-variant-and-monoclonal-antibody-accelerate-apoc-iii-clearance-and-lower-triglyceride-rich-lipoprotein-levels
#7
Sumeet A Khetarpal, Xuemei Zeng, John S Millar, Cecilia Vitali, Amritha Varshini Hanasoge Somasundara, Paolo Zanoni, James A Landro, Nicole Barucci, William J Zavadoski, Zhiyuan Sun, Hans de Haard, Ildikó V Toth, Gina M Peloso, Pradeep Natarajan, Marina Cuchel, Sissel Lund-Katz, Michael C Phillips, Alan R Tall, Sekar Kathiresan, Paul DaSilva-Jardine, Nathan A Yates, Daniel J Rader
Recent large-scale genetic sequencing efforts have identified rare coding variants in genes in the triglyceride-rich lipoprotein (TRL) clearance pathway that are protective against coronary heart disease (CHD), independently of LDL cholesterol (LDL-C) levels. Insight into the mechanisms of protection of these variants may facilitate the development of new therapies for lowering TRL levels. The gene APOC3 encodes apoC-III, a critical inhibitor of triglyceride (TG) lipolysis and remnant TRL clearance. Here we report a detailed interrogation of the mechanism of TRL lowering by the APOC3 Ala43Thr (A43T) variant, the only missense (rather than protein-truncating) variant in APOC3 reported to be TG lowering and protective against CHD...
September 2017: Nature Medicine
https://www.readbyqxmd.com/read/28701354/pleiotropic-effects-of-apolipoprotein-c3-on-hdl-functionality-and-adipose-tissue-metabolic-activity
#8
Evangelia Zvintzou, Marie Lhomme, Stella Chasapi, Serafoula Filou, Vassilis Theodoropoulos, Eva Xapapadaki, Anatol Kontush, George Spyroulias, Constantinos C Tellis, Alexandros D Tselepis, Caterina Constantinou, Kyriakos E Kypreos
APOC3 is produced mainly by the liver and intestine and approximately half of plasma APOC3 associates with HDL. Though it was believed that APOC3 associates with HDL by simple binding to preexisting particles, recent data support that biogenesis of APOC3-containing HDL (APOC3-HDL) requires Abca1. Moreover, APOC3-HDL contributes to plasma triglyceride homeostasis by preventing APOC3 association with triglyceride-rich lipoproteins. Interestingly, APOC3-HDL also shows positive correlation with the morbidly obese phenotype...
September 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28694296/apolipoprotein-c-iii-inhibits-triglyceride-hydrolysis-by-gpihbp1-bound-lpl
#9
Mikael Larsson, Christopher M Allan, Rachel S Jung, Patrick J Heizer, Anne P Beigneux, Stephen G Young, Loren G Fong
apoC-III is often assumed to retard the intravascular processing of triglyceride-rich lipoproteins (TRLs) by inhibiting LPL, but that view is based largely on studies of free LPL. We now recognize that intravascular LPL is neither free nor loosely bound, but instead is tightly bound to glycosylphosphatidylinositol-anchored HDL-binding protein 1 (GPIHBP1) on endothelial cells. Here, we revisited the effects of apoC-III on LPL, focusing on apoC-III's capacity to affect the activity of GPIHBP1-bound LPL. We found that TRLs from APOC3 transgenic mice bound normally to GPIHBP1-bound LPL on cultured cells in vitro and to heart capillaries in vivo...
September 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28662995/simplifying-the-human-serum-proteome-for-discriminating-patients-with-bipolar-disorder-of-other-psychiatry-conditions
#10
Jemmyson Romário de Jesus, Rodrigo Moretto Galazzi, Tatiani Brenelli de Lima, Cláudio Eduardo Muller Banzato, Luiz Fernando de Almeida Lima E Silva, Clarissa de Rosalmeida Dantas, Fábio Cézar Gozzo, Marco Aurélio Zezzi Arruda
PURPOSE: An exploratory analysis using proteomic strategies in blood serum of patients with bipolar disorder (BD), and with other psychiatric conditions such as Schizophrenia (SCZ), can provide a better understanding of this disorder, as well as their discrimination based on their proteomic profile. METHODS: The proteomic profile of blood serum samples obtained from patients with BD using lithium or other drugs (N=14), healthy controls, including non-family (HCNF; N=3) and family (HCF; N=9), patients with schizophrenia (SCZ; N=23), and patients using lithium for other psychiatric conditions (OD; N=4) were compared...
June 26, 2017: Clinical Biochemistry
https://www.readbyqxmd.com/read/28635360/the-association-between-apolipoprotein-a1-c3-a5-gene-cluster-promoter-polymorphisms-and-risk-of-ischemic-stroke-in-the-northern-chinese-han-population
#11
Yanzhe Wang, Fang Liu, Lei Li, Shumin Deng, Zhiyi He
Objective Given its effects on lipid metabolism, the apolipoprotein A1-C3-A5 ( APOA1-C3-A5) gene cluster is thought to play an important role in ischemic stroke pathogenesis. Here, we evaluated whether the APOA1-C3-A5 cluster is associated with ischemic stroke in the northern Chinese Han population. Methods This case-control study analyzed 812 patients with ischemic stroke and 844 healthy controls with regard to four APOA1-C3-A5 cluster promoter single nucleotide polymorphisms (SNPs), rs670, rs2854116, rs2854117, and rs662799, using the SNaPshot Multiplex sequencing assay...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28610615/quantitative-trait-loci-at-the-11q23-3-chromosomal-region-related-to-dyslipidemia-in-the-population-of-andhra-pradesh-india
#12
Rayabarapu Pranavchand, Battini Mohan Reddy
BACKGROUND: Given the characteristic atherogenic dyslipidemia of south Indian population and crucial role of APOA1, APOC3, APOA4 and APOA5 genes clustered in 11q23.3 chromosomal region in regulating lipoprotein metabolism and cholesterol homeostasis, a large number of recently identified variants are to be explored for their role in regulating the serum lipid parameters among south Indians. METHODS: Using fluidigm SNP genotyping platform, a prioritized set of 96 SNPs of the 11q23...
June 13, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28599304/hdl-cholesterol-concentration-in-pregnant-chinese-han-women-of-late-second-trimester-associated-with-genetic-variants-in-cetp-abca1-apoc3-and-galnt2
#13
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...
May 24, 2017: Oncotarget
https://www.readbyqxmd.com/read/28595549/apoc-iii-antisense-oligonucleotides-a-new-option-for-the-treatment-of-hypertriglyceridemia
#14
Joel Schmitz, Ioanna Gouni-Berthold
Elevated triglyceride levels (higher than ~1000 mg/dL) are associated with an increased risk for pancreatitis. Apolipoprotein-CIII (apoC-III) plays a key role in the metabolism of triglycerides and triglyceride-rich lipoproteins. Loss of function mutations in the gene encoding apoC-III (APOC3) are associated with low triglyceride levels and a decreased risk for cardiovascular disease (CVD) while overexpression of APOC3 is associated with hypertriglyceridemia. Although many drugs such as fibrates, statins and omega-3 fatty acids modestly decrease triglyceride levels (and apoC-III concentrations), there are many patients who still have severe hypertriglyceridemia and are at increased risk for pancreatitis and potentially for CVD...
June 8, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28548292/hypertriglyceridemic-acute-pancreatitis-in-emergency-department-typical-clinical-features-and-genetic-variants
#15
Wan Jun Chen, Xiao Fan Sun, Rui Xue Zhang, Min Jie Xu, Tong Hai Dou, Xiao Bin Zhang, Min Zhong, Wei Qiang Yang, Li Liu, Xiao Ye Lu, Chang Qing Zhu
OBJECTIVE: To investigate the clinical characteristics of patients with hypertriglyceridemic acute pancreatitis (HTGAP), and the molecular foundation contributing to hypertriglyceridemia in such patients. METHODS: Clinical data from 329 patients with acute pancreatitis (AP) were analyzed. The patients were divided into the HTGAP group, with fasting serum triglyceride (TG) levels ≥500 mg/dL (5.65 mmol/L), and the non-HTGAP (NHTGAP) group. Targeted next-generation sequencing was applied to 11 HTGAP patients to identify the genetic mutations associated with hypertriglyceridemia, including apolipoprotein A-V (APOA5), APOC2, APOC3 and APOE, BLK, LPL, GPIHBP1 and LMF1...
June 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28496949/the-effect-of-interactions-of-single-nucleotide-polymorphisms-of-apoa1-apoc3-with-food-group-intakes-on-the-risk-of-metabolic-syndrome
#16
Firoozeh Hosseini-Esfahani, Parvin Mirmiran, Maryam S Daneshpour, Azadeh Mottaghi, Fereidoun Azizi
BACKGROUND: The aim of this study was to examine the interaction of dietary food groups and genetic variants of APOA1/APOC3, relative to Metabolic Syndrome (MetS) risk in adults. METHODS: In this matched nested case-control study, 414 MetS subjects and 414 controls were selected from among participants of Tehran Lipid and Glucose Study. Dietary intake was assessed with the use of a valid and reliable semi-quantitative food frequency questionnaire. Single Nucleotide Polymorphisms (SNPs), APOA1 (rs670, -75G>A and rs5069, +83C>T/APOC3 rs5128 C3238>G) were genotyped by the conventional polymerase chain reaction and restriction fragment length polymorphism...
April 2017: Avicenna Journal of Medical Biotechnology
https://www.readbyqxmd.com/read/28436483/itraq-based-proteomic-analysis-reveals-key-proteins-affecting-muscle-growth-and-lipid-deposition-in-pigs
#17
Zhixiu Wang, Peng Shang, Qinggang Li, Liyuan Wang, Yangzom Chamba, Bo Zhang, Hao Zhang, Changxin Wu
Growth rate and meat quality, two economically important traits in pigs, are controlled by multiple genes and biological pathways. In the present study, we performed a proteomic analysis of longissimus dorsi muscle from six-month-old pigs from two Chinese native mini-type breeds (TP and DSP) and two introduced western breeds (YY and LL) using isobaric tag for relative and absolute quantification (iTRAQ). In total, 4,815 peptides corresponding to 969 proteins were detected. Comparison of expression patterns between TP-DSP and YY-LL revealed 288 differentially expressed proteins (DEPs), of which 169 were up-regulated and 119 were down-regulated...
April 24, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28419892/plasma-apolipoproteins-and-physical-and-cognitive-health-in-very-old-individuals
#18
Julia Muenchhoff, Fei Song, Anne Poljak, John D Crawford, Karen A Mather, Nicole A Kochan, Zixuan Yang, Julian N Trollor, Simone Reppermund, Kate Maston, Adam Theobald, Susanne Kirchner-Adelhardt, John B Kwok, Robyn L Richmond, Mark McEvoy, John Attia, Peter W Schofield, Henry Brodaty, Perminder S Sachdev
Apolipoproteins play a crucial role in lipid metabolism with implications in cardiovascular disease, obesity, diabetes, Alzheimer's disease, and longevity. We quantified 7 apolipoproteins in plasma in 1067 individuals aged 56-105 using immunoassays and explored relationships with APOE polymorphism ε2/3/4, vascular health, frailty, and cognition. ApoA1, ApoA2, ApoB, ApoC3, ApoE, ApoH, and ApoJ decreased from mid-life, although ApoE and ApoJ had U-shaped trends. Centenarians had the highest ApoE levels and the lowest frequency of APOE ε4 allele relative to younger groups...
March 1, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28406212/human-knockouts-and-phenotypic-analysis-in-a-cohort-with-a-high-rate-of-consanguinity
#19
Danish Saleheen, Pradeep Natarajan, Irina M Armean, Wei Zhao, Asif Rasheed, Sumeet A Khetarpal, Hong-Hee Won, Konrad J Karczewski, Anne H O'Donnell-Luria, Kaitlin E Samocha, Benjamin Weisburd, Namrata Gupta, Mozzam Zaidi, Maria Samuel, Atif Imran, Shahid Abbas, Faisal Majeed, Madiha Ishaq, Saba Akhtar, Kevin Trindade, Megan Mucksavage, Nadeem Qamar, Khan Shah Zaman, Zia Yaqoob, Tahir Saghir, Syed Nadeem Hasan Rizvi, Anis Memon, Nadeem Hayyat Mallick, Mohammad Ishaq, Syed Zahed Rasheed, Fazal-Ur-Rehman Memon, Khalid Mahmood, Naveeduddin Ahmed, Ron Do, Ronald M Krauss, Daniel G MacArthur, Stacey Gabriel, Eric S Lander, Mark J Daly, Philippe Frossard, John Danesh, Daniel J Rader, Sekar Kathiresan
A major goal of biomedicine is to understand the function of every gene in the human genome. Loss-of-function mutations can disrupt both copies of a given gene in humans and phenotypic analysis of such 'human knockouts' can provide insight into gene function. Consanguineous unions are more likely to result in offspring carrying homozygous loss-of-function mutations. In Pakistan, consanguinity rates are notably high. Here we sequence the protein-coding regions of 10,503 adult participants in the Pakistan Risk of Myocardial Infarction Study (PROMIS), designed to understand the determinants of cardiometabolic diseases in individuals from South Asia...
April 12, 2017: Nature
https://www.readbyqxmd.com/read/28395986/a-decade-of-progress-on-the-genetic-basis-of-coronary-artery-disease-practical-insights-for-the-internist
#20
REVIEW
Domenico Girelli, Chiara Piubelli, Nicola Martinelli, Roberto Corrocher, Oliviero Olivieri
Clinicians are well aware of the importance of a positive family history for coronary artery disease (CAD). Nonetheless, elucidation of the genetic basis of CAD has long proven difficult. The scenario changed in the last decade through the application of modern genomic technologies, like genome-wide association studies (GWAS) and next generation sequencing (NGS). GWAS have discovered over 60 common variants highly associated with CAD. For predictive purposes, such variants have been used to build up Genetic Risk Scores (GRSs), but their incorporation into classical prediction models does not appear substantially outperform the simple addition of family history...
April 7, 2017: European Journal of Internal Medicine
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