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

2020 ◽  
Vol 696 ◽  
pp. 108655
Author(s):  
Angeliki Chroni ◽  
Loukianos Rallidis ◽  
Despoina Vassou ◽  
Christina Gkolfinopoulou ◽  
Paraskevi Papakosta ◽  
...  
Keyword(s):  
Rare Variant ◽  
Hdl Cholesterol ◽  
Cholesterol Levels ◽  
Apolipoprotein A ◽  
Hdl Functionality ◽  
Identification And Characterization

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations

2011 ◽  
Vol 32 (11) ◽  
pp. 1290-1298 ◽  
Author(s):  
Adriaan G. Holleboom ◽  
Jan A. Kuivenhoven ◽  
Frank Peelman ◽  
Alinda W. Schimmel ◽  
Jorge Peter ◽  
...  
Keyword(s):  
The Netherlands ◽  
Hdl Cholesterol ◽  
Novel Mutations ◽  
Cholesterol Levels ◽  
High Prevalence ◽  
Low Hdl ◽  
Identification And Characterization

Abstract 104: Serum from Patients with Aortic Valvular Stenosis Shows Decreased Cholesterol Efflux Capacities Despite Similar High-Density Lipoprotein Cholesterol Levels

2012 ◽  
Vol 32 (suppl_1) ◽  
Author(s):  
Benoit J Arsenault ◽  
Mathieu R Brodeur ◽  
David Rhainds ◽  
Anne-Elen Kernaleguen ◽  
Véronique Lavoie ◽  
...  
Keyword(s):  
Cholesterol Efflux ◽  
Pearson Correlation ◽  
Hdl Cholesterol ◽  
P Value ◽  
Aortic Valvular Stenosis ◽  
Cholesterol Efflux Capacity ◽  
Cholesterol Levels ◽  
Apolipoprotein A ◽  
Valvular Stenosis ◽  
Jet Velocity

Background: Studies have shown that low HDL-cholesterol levels may be associated with the progression of aortic valvular calcium and aortic valvular stenosis (AVS), but whether patients with AVS have impaired cholesterol efflux capacities is unknown. Methods and results: We have measured four parameters of cholesterol efflux capacity in apolipoprotein B-depleted serum samples from 48 patients with (aortic jet velocity ≥2.5 m/s, mean age = 72 ± 7 years and 72.7% men) and 51 patients without AVS (aortic jet velocity ≤ 1.7 m/s, mean age 71 ± 7 years and 70.6% men). Cholesterol efflux capacity was measured using J774 macrophages with and without stimulation of ABCA1 expression by cAMP (non-stimulated efflux, total efflux and ABCA1-mediated efflux), and HepG2 hepatocytes to measure SR-BI-mediated efflux. Mean HDL-cholesterol and apolipoprotein A-I levels as well as efflux are shown in the table for patients with vs. without AVS. The Pearson correlation coefficient between HDL-cholesterol levels and SR-B1-dependent efflux was 0.39 (p=0.007) in patients with AVS and 0.68 (<0.0001) in controls (P-value for the difference between the correlation coefficients obtained with Fisher’s test = 0.04). Conclusions: This study provides evidence that serum from patients with AVS may have impaired cholesterol efflux capacities, especially through the SR-B1 pathway. Table. Mean HDL-cholesterol and apolipoprotein A-I levels as well as non-stimulated-, total-, ABCA1-, and SR-B1-dependent cholesterol efflux obtained from patients’ serum with vs. without AVS. Data is shown as mean ± SD. Differences between categories were assessed using a Student unpaired t-test.

Screening for naturally occurring apolipoprotein A-I variants: apo A-I(?K107) is associated with low HDL-cholesterol levels in men but not in women

1995 ◽  
Vol 96 (2) ◽  
pp. 177-182 ◽  
Author(s):  
Jerzy-Roch Nofer ◽  
Arnold Eckardstein ◽  
Heiko Wiebusch ◽  
Wei Weng ◽  
Harald Funke ◽  
...  
Keyword(s):  
Hdl Cholesterol ◽  
Cholesterol Levels ◽  
Naturally Occurring ◽  
Apolipoprotein A ◽  
Low Hdl

scholarly journals Decreased HDL cholesterol levels but normal lipid absorption, growth, and feeding behavior in apolipoprotein A-IV knockout mice

1997 ◽  
Vol 38 (9) ◽  
pp. 1782-1794 ◽  
Author(s):  
P H Weinstock ◽  
C L Bisgaier ◽  
T Hayek ◽  
K Aalto-Setala ◽  
E Sehayek ◽  
...  
Keyword(s):  
Feeding Behavior ◽  
Knockout Mice ◽  
Hdl Cholesterol ◽  
Lipid Absorption ◽  
Cholesterol Levels ◽  
Apolipoprotein A

scholarly journals High-density lipoprotein characteristics and coronary heart disease: a Mendelian randomization study

2019 ◽  
Author(s):  
Albert Prats-Uribe ◽  
Sergi Sayols-Baixeras ◽  
Alba Fernández-Sanlés ◽  
Isaac Subirana ◽  
Robert Carreras-Torres ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Mendelian Randomization ◽  
Hdl Cholesterol ◽  
High Density ◽  
Size Particle ◽  
Cholesterol Levels ◽  
Apolipoprotein A ◽  
Triglyceride Content ◽  
Genetically Determined ◽  
Cad Risk

ABSTRACTBackgroundThe causal role of high-density lipoproteins (HDL) in coronary artery disease (CAD) has been questioned. Our aim was to analyze whether genetically determined quantitative and qualitative HDL characteristics were independently associated with CAD.MethodsWe designed a two-sample multivariate Mendelian randomization study with available genome-wide association summary data. We identified genetic variants associated with HDL cholesterol and apolipoprotein A-I quantity, HDL size, particle levels, and lipid content to define our genetic instrumental variables in one sample (Kettunen et al study,N=24,925) and analyzed their association with CAD risk in a different study (CARDIoGRAMplusC4D,N=184,305). We validated these results by defining our genetic variables in another database (METSIM,N=8,372) and studied their relationship with CAD in the CARDIoGRAMplusC4D dataset. To estimate the effect size of the associations of interest adjusted for other lipoprotein traits (potential pleiotropy) we used the Multi-trait-based Conditional & Joint analysis.ResultsGenetically determined HDL cholesterol and apolipoprotein A-I levels were not associated with CAD. HDL mean diameter (β=0.27 [95%CI=0.19; 0.35]), cholesterol levels in very large HDLs (β=0.29 [95%CI=0.17; 0.40]), and triglyceride content in very large HDLs (β=0.14 [95%CI=0.040; 0.25]) were directly associated with CAD risk, whereas the cholesterol content in medium-sized HDLs (β=-0.076 [95%CI=-0.10; −0.052]) was inversely related to this risk. These results were validated in the METSIM-CARDIoGRAMplusC4D data. Genetic variants linked to both HDL qualitative traits and CAD risk were located withinLIPC, theAPOE/C1/C4/C2cluster,APOB, PCIF1-PLTP, andTTC39B.ConclusionsSome HDL characteristics related to size, particle distribution, and triglyceride content are related to CAD risk whilst HDL cholesterol levels are not. This relationship could be mediated by the hepatic lipase; the apolipoproteins E, C-I, and B; the phospholipid transfer protein; and the tetratricopeptide repeat domain protein 39B, which arise as potential therapeutic targets in cardiovascular disease.

scholarly journals Identification and Characterization of Novel Lysine-independent Apolipoprotein(a)-binding Sites in Fibrin(ogen) αC-domains

2003 ◽  
Vol 278 (39) ◽  
pp. 37154-37159 ◽  
Author(s):  
Galina Tsurupa ◽  
Benoît Ho-Tin-Noé ◽  
Eduardo Anglés-Cano ◽  
Leonid Medved
Keyword(s):  
Binding Sites ◽  
Apolipoprotein A ◽  
Identification And Characterization

scholarly journals Association between Systemic Lupus Erythematosus and Coronary Heart Disease: a retrospective case-control analysis and Mendelian Randomization Study

2021 ◽  
Author(s):  
Jinyun Chen ◽  
Junmei Tian ◽  
Wen Wang ◽  
Shiliang Zhou ◽  
Lu Zhang ◽  
...  
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Coronary Heart Disease ◽  
Lupus Erythematosus ◽  
Coronary Atherosclerosis ◽  
Mendelian Randomization ◽  
Hdl Cholesterol ◽  
Systemic Lupus ◽  
Cholesterol Levels ◽  
Apolipoprotein A ◽  
Genome Wide

Objectives To appraise the causal effect of systemic lupus erythematosus (SLE) for risk of Coronary heart disease (CHD). Methods We selected single nucleotide polymorphisms (SNPs) associated with SLE as instrumental variables (IVs) from three independent genome-wide association studies (GWAS), the three largest to date for SLE of European ancestry. Then we conducted two-sample Mendelian randomization (2SMR) analyses to estimate the effects of IVs on the odds of CHD and traditional coronary risk factors (including high LDL cholesterol levels, low HDL cholesterol levels, Apolipoprotein A-I, Apolipoprotein B, diabetes mellitus, and hypertension). Additionally, we searched for common risk loci between SLE and premature coronary atherosclerosis. Furthermore, we retrospectively reviewed the lipid profile of treatment-naïve SLE patients and age-matched healthy controls. Results Genetically predicted SLE did not increase the odds of CHD. Nevertheless, we found mild causal relationships between SLE and decreased HDL cholesterol levels, and between SLE and decreased apolipoprotein A-I. There was one common risk locus (rs597808) between SLE and premature coronary atherosclerosis at a genome-wide significance level (P<5 ×10−8). Retrospective analysis showed decreased HDL-cholesterol (0.98±0.516mmol/L vs. 1.46±0.307mmol/L in female, 0.76±0.199mmol/L vs. 1.19±0.257mmol/L in male; both P<0.001) and apolipoprotein A-I (1.06±0.314g/L vs. 1.37±0.205g/L in female, 0.87±0.174g/L vs. 1.24±0.200g/L in male; both P<0.001) in naïve SLE patients. Conclusion SLE may accelerate coronary atherosclerosis in young patients by reducing HDL cholesterol and apolipoprotein A-I intrinsically, but it seems not to play a predominant role in CHD development in old patients.

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