12,821 results match your criteria Genetics of LDL Cholesterol


The causal effects of serum lipids and apolipoproteins on kidney function: multivariable and bidirectional Mendelian-randomization analyses.

Int J Epidemiol 2021 Jun 21. Epub 2021 Jun 21.

K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.

Background: The causal nature of the observed associations between serum lipids and apolipoproteins and kidney function are unclear.

Methods: Using two-sample and multivariable Mendelian randomization (MR), we examined the causal effects of serum lipids and apolipoproteins on kidney function, indicated by the glomerular-filtration rate estimated using creatinine (eGFRcrea) or cystatin C (eGFRcys) and the urinary albumin-to-creatinine ratio (UACR). We obtained lipid- and apolipoprotein-associated genetic variants from the Global Lipids Genetics Consortium (n = 331 368) and UK Biobank (n = 441 016), respectively, and kidney-function markers from the Trøndelag Health Study (HUNT; n = 69 736) and UK Biobank (n = 464 207). Read More

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A Less than Provocative Approach for the Primary Prevention of CAD.

J Cardiovasc Transl Res 2021 Jun 14. Epub 2021 Jun 14.

College of Medicine, The University of Arizona, Phoenix, USA.

Coronary artery disease (CAD) risk increases in proportion to the magnitude and duration of exposure to plasma low-density lipoprotein cholesterol (LDL-C), doubling every additional decade of exposure. Early primary prevention is three times more effective than initiated later. Several clinical trials show plasma LDL-C of 15-40 mg/dL is more effective and equally safe as the Current Cardiovascular Clinical Practice Guidelines (CCCPG) recommended target of 70mg/dL. Read More

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Pathological Crosstalk Between Oxidized LDL and ER Stress in Human Diseases: A Comprehensive Review.

Front Cell Dev Biol 2021 26;9:674103. Epub 2021 May 26.

Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.

The oxidative modification of the major cholesterol carrying lipoprotein, oxLDL, is a biomarker as well as a pathological factor in cardiovascular diseases (CVD), type 2 diabetes mellitus (T2DM), obesity and other metabolic diseases. Perturbed cellular homeostasis due to physiological, pathological and pharmacological factors hinder the proper functioning of the endoplasmic reticulum (ER), which is the major hub for protein folding and processing, lipid biosynthesis and calcium storage, thereby leading to ER stress. The cellular response to ER stress is marked by a defensive mechanism called unfolded protein response (UPR), wherein the cell adapts strategies that favor survival. Read More

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Familial Hypercholesterolemia in the Arabian Gulf Region: Clinical results of the Gulf FH Registry.

PLoS One 2021 4;16(6):e0251560. Epub 2021 Jun 4.

Department of Cardiac Sciences, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Background And Aims: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder that can result in premature atherosclerotic cardiovascular disease (ASCVD). Limited data are available worldwide about the prevalence and management of FH. Here, we aimed to estimate the prevalence and management of patients with FH in five Arabian Gulf countries (Saudi Arabia, Oman, United Arab Emirates, Kuwait, and Bahrain). Read More

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Genetics, its role in preventing the pandemic of coronary artery disease.

Clin Cardiol 2021 Jun 25;44(6):771-779. Epub 2021 May 25.

College of Medicine, Phoenix, St. Joseph's Hospital and Medical Center, The University of Arizona, Phoenix, Arizona, USA.

Epidemiologists have claimed for decades that about 50% of predisposition for coronary artery disease (CAD) is genetic. Advances in technology made possible the discovery of hundreds of genetic risk variants predisposing to CAD. Multiple clinical trials have shown that cardiac events can be prevented by drugs to lower plasma low-density lipoprotein cholesterol (LDL-C). Read More

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Differences in Recycling of Apolipoprotein E3 and E4-LDL Receptor Complexes-A Mechanistic Hypothesis.

Int J Mol Sci 2021 May 10;22(9). Epub 2021 May 10.

Department of Physiology, UT Southwestern Medical Center, Dallas, TX 75390, USA.

Apolipoprotein E (ApoE) is a protein that plays an important role in the transport of fatty acids and cholesterol and in cellular signaling. On the surface of the cells, ApoE lipoparticles bind to low density lipoprotein receptors (LDLR) that mediate the uptake of the lipids and downstream signaling events. There are three alleles of the human gene. Read More

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APOE gene variants in primary dyslipidemia.

Atherosclerosis 2021 May 23;328:11-22. Epub 2021 May 23.

Laboratory for Vascular Translational Science (LVTS), INSERM U1148, Centre Hospitalo-Universitaire Xavier Bichat, Paris, France; Université de Paris, Paris, France. Electronic address:

Apolipoprotein E (apoE) is a major apolipoprotein involved in lipoprotein metabolism. It is a polymorphic protein and different isoforms are associated with variations in lipid and lipoprotein levels and thus cardiovascular risk. The isoform apoE4 is associated with an increase in LDL-cholesterol levels and thus a higher cardiovascular risk compared to apoE3. Read More

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Triglyceride-lowering LPL alleles combined with LDL-C-lowering alleles are associated with an additively improved lipoprotein profile.

Atherosclerosis 2021 May 9. Epub 2021 May 9.

Dept. Human Genetics, Leiden University Medical Center, Leiden, the Netherlands; Dept. Internal Medicine, Div. Endocrinology, Leiden University Medical Center, Leiden, the Netherlands; Einthoven Laboratory for Experimental Vascular Medicine, Leiden University Medical Center, Leiden, the Netherlands.

Background And Aims: Mendelian randomization studies have shown that triglyceride (TG)- lowering lipoprotein lipase (LPL) alleles and low-density lipoprotein-cholesterol (LDL-C)-lowering alleles have independent beneficial associations on cardiovascular disease (CVD) risk. We aimed to provide further insight into this observation by applying Mendelian randomization analyses of genetically-influenced TG and LDL-C levels on plasma metabolomic profiles.

Methods: We quantified over 100 lipoprotein metabolomic measures in the Netherlands Epidemiology of Obesity (NEO) study (N = 4838) and Oxford Biobank (OBB) (N = 6999) by nuclear magnetic resonance (NMR) spectroscopy. Read More

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Essentials of a new clinical practice guidance on familial hypercholesterolaemia for physicians.

Intern Med J 2021 May;51(5):769-779

School of Medicine, University of Western Australia, Perth, Western Australia, Australia.

Familial hypercholesterolaemia (FH) is a common, heritable and preventable cause of premature coronary artery disease. New clinical practice recommendations are presented to assist practitioners in enhancing the care of all patients with FH. Core recommendations are made on the detection, diagnosis, assessment and management of adults, children and adolescents with FH. Read More

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Association of rs11780592 Polymorphism in the Human Soluble Epoxide Hydrolase Gene (EPHX2) with Oxidized LDL and Mortality in Patients with Diabetic Chronic Kidney Disease.

Oxid Med Cell Longev 2021 6;2021:8817502. Epub 2021 May 6.

Division of Nephrology and Hypertension, 1st Department of Internal Medicine, AHEPA Hospital, School of Medicine, Aristotle University of Thessaloniki, 54636 Thessaloniki, Greece.

Soluble epoxide hydrolase 2 (EPHX2) is an enzyme promoting increased cellular apoptosis through induction of oxidative stress (OS) and inflammation. The gene which encodes soluble EPHX2 might be implicated in the pathogenesis and development of OS and atherosclerosis. We aimed to assess the possible association between two functional polymorphisms of the gene (rs2741335 and rs11780592) with oxidized LDL (ox-LDL), carotid atherosclerosis, mortality, and cardiovascular (CV) disease in 118 patients with diabetic chronic kidney disease (CKD). Read More

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Genetic effects on liver chromatin accessibility identify disease regulatory variants.

Am J Hum Genet 2021 May 20. Epub 2021 May 20.

Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA. Electronic address:

Identifying the molecular mechanisms by which genome-wide association study (GWAS) loci influence traits remains challenging. Chromatin accessibility quantitative trait loci (caQTLs) help identify GWAS loci that may alter GWAS traits by modulating chromatin structure, but caQTLs have been identified in a limited set of human tissues. Here we mapped caQTLs in human liver tissue in 20 liver samples and identified 3,123 caQTLs. Read More

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Cohort Generation and Characterization of Patient-Specific Familial Hypercholesterolemia Induced Pluripotent Stem Cells.

Stem Cells Dev 2021 Jun 21;30(12):632-640. Epub 2021 May 21.

Department of Biochemistry and Molecular Genetics and University of Louisville School of Medicine, Louisville, Kentucky, USA.

Homozygous familial hypercholesterolemia (hoFH) is a rare disorder caused primarily by pathological mutations in the low-density lipoprotein receptor (LDLR), which disrupts LDL-cholesterol (LDL-C) metabolism homeostasis. hoFH patients are at extremely high risk for cardiovascular disease and are resistant to standard therapies. LDLR knockout animals and in vitro cell models overexpressing different mutations have proved useful, but may not fully recapitulate human LDLR mutation biology. Read More

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Editorial: Genetics of Familial Hypercholesterolemia: New Insight.

Front Genet 2021 6;12:669373. Epub 2021 May 6.

Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway.

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Effect of Korean Red Ginseng on metabolic syndrome.

J Ginseng Res 2021 May 12;45(3):380-389. Epub 2020 Nov 12.

Institute for Liver and Digestive Diseases, Hallym University, Chuncheon, Republic of Korea.

Metabolic syndrome (MS) refers to a clustering of at least three of the following medical conditions: high blood pressure, abdominal obesity, hyperglycemia, low high-density lipoprotein level, and high serum triglycerides. MS is related to a wide range of diseases which includes obesity, diabetes, insulin resistance, cardiovascular disease, dyslipidemia, or non-alcoholic fatty liver disease. There remains an ongoing need for improved treatment strategies for MS. Read More

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Association of vitamins, minerals, and lead with Lipoprotein(a) in a cross-sectional cohort of US adults.

Int J Vitam Nutr Res 2021 May 24:1-12. Epub 2021 May 24.

Section of Cardiovascular Medicine, Department of Internal Medicine, Yale School of Medicine, New Haven, CT, USA.

Lipoprotein(a)(Lp[a]) is a low-density lipoprotein-cholesterol (LDL-C)-like particle with potent pro-atherothrombotic properties. The association of Lp(a) with several circulating factors, including vitamins, remains unresolved. We performed an observational analysis using the National Health and Nutrition Examination Survey III cohort, a cohort used to monitor the nutrition status of US-citizens. Read More

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Associations of circulating choline and its related metabolites with cardiometabolic biomarkers: an international pooled analysis.

Am J Clin Nutr 2021 May 21. Epub 2021 May 21.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt University Medical Center, Nashville, TN, USA.

Background: Choline is an essential nutrient; however, the associations of choline and its related metabolites with cardiometabolic risk remain unclear.

Objective: We examined the associations of circulating choline, betaine, carnitine, and dimethylglycine (DMG) with cardiometabolic biomarkers and their potential dietary and nondietary determinants.

Methods: The cross-sectional analyses included 32,853 participants from 17 studies, who were free of cancer, cardiovascular diseases, chronic kidney diseases, and inflammatory bowel disease. Read More

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Effect of Cumulative Exposure to Low-Density Lipoprotein-Cholesterol on Cardiovascular Events in Patients With Familial Hypercholesterolemia.

Circ J 2021 May 20. Epub 2021 May 20.

Department of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Sciences.

Background: Recent studies suggest that cumulative exposure to low-density lipoprotein-cholesterol (LDL-C) leads to the development of atherosclerotic cardiovascular disease (ASCVD). However, few studies have investigated whether this link extends to individuals with familial hypercholesterolemia (FH), a relevant patient population.Methods and Results:We retrospectively investigated the health records of 1,050 patients with clinical FH diagnosis between April 1990 and March 2019. Read More

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Case of homozygous familial hypercholesterolaemia with premature coronary artery disease.

BMJ Case Rep 2021 May 19;14(5). Epub 2021 May 19.

Cardiovascular Medicine, University of Louisville, Louisville, Kentucky, USA.

Familial hypercholesterolaemia is a genetic disorder secondary to mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) metabolism; these mutation(s) cause highly elevated serum LDL-C, significantly increasing the risk of early cardiovascular events and mortality. Homozygous familial hypercholesterolaemia (HoFH) is rare and often leads to accelerated coronary atherosclerosis presenting within the first two decades of life. We report a case of a 14-year-old boy who presented after surviving a ventricular fibrillation cardiac arrest. Read More

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Are caveolin-1 minor alleles more likely to be risk alleles in insulin resistance mechanisms in metabolic diseases?

BMC Res Notes 2021 May 17;14(1):185. Epub 2021 May 17.

Department of Community Nutrition, School of Nutritional Sciences and Dietetics, Tehran University of Medical Sciences (TUMS), No. 44, Hojjat-dost Alley, Naderi St., Keshavarz Blvd, P.O. Box, 14155-6117, Tehran, Iran.

Objectives: Obesity and insulin resistance (IR) are interrelated in a range of ways. The IR-obesity relationship is not a cause-and-effect association. Molecular biology research has made tremendous strides in discovering contributors to find this association. Read More

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Time-dependent lipid profile inversely associates with mortality in hemodialysis patients - independent of inflammation/malnutrition.

J Intern Med 2021 May 17. Epub 2021 May 17.

From the, Division of Renal Medicine, Department of Clinical Science, Intervention and Technology, Karolinska Institutet, Stockholm, Sweden.

Background: Patients with end-stage kidney disease have an extremely high cardiovascular mortality rate, but there is a paradoxical relationship between lipid profile and survival in haemodialysis patients. To investigate whether inflammation/malnutrition confounds the associations between lipids and mortality, we studied a full lipid profile comprising of five clinically well-established lipid parameters and its associations with mortality in a large, multinational European cohort with a median follow-up >3 years.

Methods: The association between quartiles of total, high-density lipoprotein (HDL), non-HDL, low-density lipoprotein (LDL) cholesterol, as well as triglyceride, levels and the end-points of all-cause, cardiovascular and non-cardiovascular mortality was assessed in a cohort of 5,382 incident, adult haemodialysis patients from >250 Fresenius Medical Care dialysis centres out of 14 participating countries using baseline and time-dependent Cox models. Read More

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Diagnosis, risk factors and management of diabetes mellitus in HIV-infected persons in France: A real-life setting study.

PLoS One 2021 14;16(5):e0250676. Epub 2021 May 14.

Department of infectious diseases, Assistance Publique-Hôpitaux de Paris, Hôtel Dieu Hospital, Paris, France.

Background: Diabetes mellitus (DM) is a major and increasing public health problem that may be underdiagnosed and undertreated among persons living with HIV (PLWH).

Objective: To describe the diagnosis, treatment and follow-up of DM among PLWH.

Methods: This study was performed inside a monocentric cohort of 1494 PLWH. Read More

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[Effect of nuciferine on gut microbiota and inflammatory response in obese model mice].

Zhongguo Zhong Yao Za Zhi 2021 Apr;46(8):2104-2111

Tianjin University of Traditional Chinese Medicine Tianjin 301617, China.

The aim of this study was to elucidate the mechanism of nuciferine on alleviating obesity based on modulating gut microbiota, ameliorating chronic inflammation, and improving gut permeability. In this study, the obese model mice were induced by high-fat diet and then randomly divided into model group, and nuciferine group; some other mice of the same week age were fed with normal diet as normal group. In the modeling process, the mice were administered intragastrically(ig) for 12 weeks. Read More

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[Study on anti-hyperlipidemia effect of Linderae Radix via regulating reverse cholesterol transport].

Zhongguo Zhong Yao Za Zhi 2021 Apr;46(7):1795-1802

College of Pharmaceutical Sciences, Zhejiang Chinese Medical University Hangzhou 310053, China.

This article aims to investigate the ameliorative effect of Linderae Radix ethanol extract on hyperlipidemia rats induced by high-fat diet and to explore its possible mechanism from the perspective of reverse cholesterol transport(RCT). SD rats were divided into normal group, model group, atorvastatin group, Linderae Radix ethanol extract(LREE) of high, medium, low dose groups. Except for the normal group, the other groups were fed with a high-fat diet to establish hyperlipidemia rat models; the normal group and the model group were given pure water, while each administration group was given corresponding drugs by gavage once a day for five weeks. Read More

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Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits.

Nat Genet 2021 Jun 10;53(6):779-786. Epub 2021 May 10.

deCODE genetics/Amgen, Inc., Reykjavik, Iceland.

Long-read sequencing (LRS) promises to improve the characterization of structural variants (SVs). We generated LRS data from 3,622 Icelanders and identified a median of 22,636 SVs per individual (a median of 13,353 insertions and 9,474 deletions). We discovered a set of 133,886 reliably genotyped SV alleles and imputed them into 166,281 individuals to explore their effects on diseases and other traits. Read More

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Remnant cholesterol predicts progression of diabetic nephropathy and retinopathy in type 1 diabetes.

J Intern Med 2021 May 8. Epub 2021 May 8.

From the, Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.

Background: We aimed to assess whether remnant cholesterol concentration and variability predict the progression of diabetic nephropathy (DN) and severe diabetic retinopathy (SDR) in type 1 diabetes.

Methods: This observational prospective study covered 5150 FinnDiane Study participants. Remnant cholesterol was calculated as total cholesterol - LDL cholesterol - HDL cholesterol and variability as the coefficient of variation. Read More

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Long-term fasting improves lipoprotein-associated atherogenic risk in humans.

Eur J Nutr 2021 May 7. Epub 2021 May 7.

Buchinger Wilhelmi Clinic, Wilhelm-Beck-Straße 27, 88662, Überlingen, Germany.

Purpose: Dyslipidemia is a major health concern associated with an increased risk of cardiovascular mortality. Long-term fasting (LF) has been shown to improve plasma lipid profile. We performed an in-depth investigation of lipoprotein composition. Read More

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Assessment of causal association between thyroid function and lipid metabolism: a Mendelian randomization study.

Chin Med J (Engl) 2021 Apr 13;134(9):1064-1069. Epub 2021 Apr 13.

Department of Cardiology, Peking University Third Hospital, Beijing 100191, China.

Background: Thyroid dysfunction is associated with cardiovascular diseases. However, the role of thyroid function in lipid metabolism remains partly unknown. The present study aimed to investigate the causal association between thyroid function and serum lipid metabolism via a genetic analysis termed Mendelian randomization (MR). Read More

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Management of Familial Hypercholesterolemia: Current Status and Future Perspectives.

J Endocr Soc 2021 Jan 21;5(1):bvaa122. Epub 2020 Aug 21.

Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, China.

Familial hypercholesterolemia (FH) is the most common monogenic disorder associated with premature atherosclerotic cardiovascular disease. Early diagnosis and effective treatment can significantly improve prognosis. Recent advances in the field of lipid metabolism have shed light on the molecular defects in FH and new therapeutic options have emerged. Read More

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January 2021

Preliminary Results of CitraVes™ Effects on Low Density Lipoprotein Cholesterol and Waist Circumference in Healthy Subjects after 12 Weeks: A Pilot Open-Label Study.

Metabolites 2021 Apr 27;11(5). Epub 2021 Apr 27.

Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bi.N.D), Section of Biology and Genetics, University of Palermo, 90133 Palermo, Italy.

Appropriate monitoring and control of modifiable risk factors, such as the level of low-density lipoprotein cholesterol (LDL-C) and other types of dyslipidemia, have an important role in the prevention of cardiovascular diseases (CVD). Recently, various nutraceuticals with lipid-lowering effects have gained attention. In addition to the plant-derived bioactive compounds, recent studies suggested that plant cells are able to release small lipoproteic structures named extracellular vesicles (EVs). Read More

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Carotid Plaque Assessment Reclassifies Patients with Inflammatory Bowel Disease into Very-High Cardiovascular Risk.

J Clin Med 2021 Apr 13;10(8). Epub 2021 Apr 13.

Division of Rheumatology, Hospital Universitario de Canarias, 38320 Tenerife, Spain.

The addition of carotid ultrasound into cardiovascular (CV) risk scores has been found to be effective in identifying patients with chronic inflammatory diseases at high-CV risk. We aimed to determine if its use would facilitate the reclassification of patients with inflammatory bowel disease (IBD) into the very high-CV-risk category and whether this may be related to disease features. In this cross-sectional study encompassing 186 IBD patients and 175 controls, Systematic Coronary Risk Evaluation (SCORE), disease activity measurements, and the presence of carotid plaques by ultrasonography were assessed. Read More

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