12,205 results match your criteria Genetics of LDL Cholesterol


Genetic polymorphisms in the Interleukins IL1B, IL4, and IL6 are associated with concomitant periodontitis and type 2 diabetes mellitus in Brazilian patients.

J Periodontal Res 2020 Jul 9. Epub 2020 Jul 9.

Department of Morphology, Genetics, Orthodontics and Pediatric Dentistry, São Paulo State University-UNESP, School of Dentistry at Araraquara, Araraquara, Brazil.

Objective: To assess whether single nucleotide polymorphisms (SNPs) in the IL10, IL1A, IL1B, IL4, TNFA, IL6, OPG, RANK, and RANKL genes, "classically" related with periodontitis, could be associated with susceptibility to T2DM, and also with both diseases concomitantly.

Background: There are common pathogenic mechanisms in type 2 diabetes mellitus (T2DM) and periodontitis, but the knowledge of the genetic aspect of this is limited. In patients affected by concomitant T2DM and periodontitis, whose incidence is increasing, there is scarce information regarding the gene-phenotype association, including whether there are genes able to influence both diseases as comorbidities. Read More

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http://dx.doi.org/10.1111/jre.12784DOI Listing

Angiopoietin-like protein 3 (ANGPTL3) governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance.

J Lipid Res 2020 Jul 9. Epub 2020 Jul 9.

Regeneron Pharmaceuticals, Inc., United States

Angiopoietin-like protein 3 (ANGPTL3) regulates plasma lipids by inhibiting lipoprotein lipase (LPL) and endothelial lipase (EL). ANGPTL3 inactivation lowers LDL-cholesterol (LDL-C) independently of the classical LDL-receptor (LDLR)-mediated pathway and represents a promising therapeutic approach for individuals with homozygous familial hypercholesterolemia due to LDLR mutations. Yet, how ANGPTL3 regulates LDL-C levels is unknown. Read More

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http://dx.doi.org/10.1194/jlr.RA120000888DOI Listing

Hyperlipidaemia and IFNgamma/TNFalpha Synergism are associated with cholesterol crystal formation in Endothelial cells partly through modulation of Lysosomal pH and Cholesterol homeostasis.

EBioMedicine 2020 Jul 6:102876. Epub 2020 Jul 6.

Section of Inflammation and Cardiometabolic Diseases, National Heart, Lung and Blood Institute, 10 Center Drive, Bethesda, MD 20892, USA. Electronic address:

Background: Inflammation plays an important role in the development of cardiovascular disease (CVD). Patients with chronic inflammatory diseases have high levels of inflammatory and early fatal myocardial infarction due to early, unstable coronary plaques. Cholesterol crystals (CC) play a key role in atherogenesis. Read More

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http://dx.doi.org/10.1016/j.ebiom.2020.102876DOI Listing

A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.

Endocr J 2020 Jul 9. Epub 2020 Jul 9.

Department of Molecular Endocrinology and Metabolism, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.

Sitosterolemia is caused by homozygous or compound heterozygous gene mutations in either ATP-binding cassette subfamily G member 5 (ABCG5) or 8 (ABCG8). Since ABCG5 and ABCG8 play pivotal roles in the excretion of neutral sterols into feces and bile, patients with sitosterolemia present elevated levels of serum plant sterols and in some cases also hypercholesterolemia. A 48-year-old woman was referred to our hospital for hypercholesterolemia. Read More

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http://dx.doi.org/10.1507/endocrj.EJ20-0044DOI Listing

Results from the German Chronic Kidney Disease (GCKD) study support association of relative telomere length with mortality in a large cohort of patients with moderate chronic kidney disease.

Kidney Int 2020 Apr 7. Epub 2020 Apr 7.

Institute of Genetic Epidemiology, Department of Genetics and Pharmacology, Medical University of Innsbruck, Innsbruck, Austria. Electronic address:

Telomere length is known to be inversely associated with aging and has been proposed as a marker for aging-related diseases. Telomere attrition can be accelerated by oxidative stress and inflammation, both commonly present in patients with chronic kidney disease. Here, we investigated whether relative telomere length is associated with mortality in a large cohort of patients with chronic kidney disease stage G3 and A1-3 or G1-2 with overt proteinuria (A3) at enrollment. Read More

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http://dx.doi.org/10.1016/j.kint.2020.02.034DOI Listing

Characterization of Exome Variants and Their Metabolic Impact in 6,716 American Indians from the Southwest US.

Am J Hum Genet 2020 Jul 2. Epub 2020 Jul 2.

Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA. Electronic address:

Applying exome sequencing to populations with unique genetic architecture has the potential to reveal novel genes and variants associated with traits and diseases. We sequenced and analyzed the exomes of 6,716 individuals from a Southwestern American Indian (SWAI) population with well-characterized metabolic traits. We found that the SWAI population has distinct allelic architecture compared to populations of European and East Asian ancestry, and there were many predicted loss-of-function (pLOF) and nonsynonymous variants that were highly enriched or private in the SWAI population. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.06.009DOI Listing

Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.

J Clin Lipidol 2020 Jun 8. Epub 2020 Jun 8.

Department of Cardiology, Viborg Regional Hospital, Viborg, Denmark.

Autosomal recessive hypercholesterolemia is a rare genetic disorder due to homozygosity or compound heterozygosity for mutations in the low-density lipoprotein receptor adapter protein 1 gene (LDLRAP1), resulting in elevated low-density lipoprotein cholesterol (LDL-C) levels, large xanthomas, and increased cardiovascular risk. Here, we describe a Danish family of Syrian ancestry carrying a frameshift mutation in LDLRAP1, previously only described in Sardinia and Sicily in Italy and in Spain. In 2 children homozygous for this mutation, we evaluate the effect of long-term lipid-lowering treatment with atorvastatin as monotherapy or in combination with ezetimibe. Read More

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http://dx.doi.org/10.1016/j.jacl.2020.06.002DOI Listing

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.

Mol Genet Metab 2020 Jun 24. Epub 2020 Jun 24.

Clinical Development, Sanofi Genzyme, Cambridge, MA, United States of America.

The liver is a major site of lipoprotein synthesis and metabolism. Liver manifestations of chronic visceral ASMD include hepatomegaly, fibrosis, elevated liver enzymes and a pro-atherogenic lipid profile. Measurements of sphingomyelin (SM) levels in liver biopsies and lyso-SM in plasma were used as pharmacodynamic biomarkers. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.06.010DOI Listing

Pathophysiological Mechanisms Underlying Excess Risk for Diabetes and Cardiovascular Disease in South Asians: The Perfect Storm.

Curr Diabetes Rev 2020 Jul 3. Epub 2020 Jul 3.

Health Policy, Quality & Informatics Program, Michael E. DeBakey Veterans Affairs Medical Center Health Services Research and Development Center for Innovations; Section of Cardiovascular Research, Department of Medicine, Baylor College of Medicine, Houston, Texas. United States.

Background: South Asians are at a significantly increased risk of type 2 diabetes (T2D) and cardiovascular disease (CVD), are diagnosed at relatively younger ages, and exhibit more severe disease phenotypes as compared with other ethnic groups. The pathophysiological mechanisms underlying T2D and CVD risk in South Asians are multifactorial and intricately related.

Method: Narrative review of the pathophysiology of excess risk of T2D and CVD in South Asians. Read More

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http://dx.doi.org/10.2174/1573399816666200703182458DOI Listing

Non-HDL or LDL cholesterol in heterozygous familial hypercholesterolaemia: findings of the Simon Broome Register.

Curr Opin Lipidol 2020 Jun 28. Epub 2020 Jun 28.

Wolfson College, University of Oxford, Oxford, UK.

Purpose Of Review: The role of non-HDL-C in the identification and management of lipid disorders is not clearly defined, although UK guidelines recommend its wider use in assessing the need for lipid-lowering therapy and as a treatment target.

Recent Findings: We examined the implications of the use of non-HDL-C as opposed to LDL-C in 253 people with hypercholesterolaemia before treatment and 573 after treatment in whom fasting total serum cholesterol, HDL-C and LDL-C had been recorded and the diagnosis of heterozygous familial hypercholesterolemia (heFH) was investigated by genetic testing. The difference and the limits of agreement between non-HDL-C and LDL-C calculated using the Friedewald formula were assessed in those with and without heFH-causing mutations. Read More

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http://dx.doi.org/10.1097/MOL.0000000000000692DOI Listing

Statins and autoimmunity: State-of-the-art.

Pharmacol Ther 2020 Jun 24:107614. Epub 2020 Jun 24.

Halal Research Center of IRI, FDA, Tehran, Iran; Neurogenic Inflammation Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Biotechnology Research Center, Pharmaceutical Technology Institute, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address:

HMG-CoA reductase inhibitors, or statins, are potent plasma LDL-cholesterol (LDL-c) lowering agents. Since the introduction of the first statin, lovastatin, in 1987, accumulating evidence showed that non-cholesterol lowering effects play an important role in their efficacy to reduce atherosclerotic cardiovascular disease (ASCVD). Thus, these non-LDL-c lowering properties could benefit patients with immune-mediated diseases. Read More

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http://dx.doi.org/10.1016/j.pharmthera.2020.107614DOI Listing
June 2020
9.723 Impact Factor

A Short-Term Western Diet Impairs Cholesterol Homeostasis and Key Players of Beta Amyloid Metabolism in Brain of Middle Aged Rats.

Mol Nutr Food Res 2020 Jun 24:e2000541. Epub 2020 Jun 24.

Department of Biology, University of Naples Federico II, Naples, Italy.

Scope: Cholesterol homeostasis is crucial for brain functioning. Unhealthy nutrition can influence cerebral physiology, but the effect of western diets on brain cholesterol homeostasis, particularly at middle age, is unknown. Given the link between brain cholesterol alteration and beta amyloid production, our aim was to evaluate whether a short-term diet, rich in fat and fructose, affects the protein network implicated in cholesterol synthesis and shuttling between glial cells and neurons, as well as crucial markers beta amyloid metabolism. Read More

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http://dx.doi.org/10.1002/mnfr.202000541DOI Listing

Circulating plasma proteins and new-onset diabetes in a population-based study: proteomic and genomic insights from the STANISLAS cohort.

Eur J Endocrinol 2020 Jun 1. Epub 2020 Jun 1.

P Rossignol, CIC-P , Lorraine European University Centre, Nancy, France.

Objective: Determining the factors associated with new-onset pre-diabetes and type 2 diabetes mellitus (T2D) is important for improving the current prevention strategies and for a better understanding of the disease.

Design: To study the factors (clinical, circulating protein and genetic) associated with new onset pre-diabetes and T2D in an initially healthy (without diabetes) populational familial cohort with a long follow-up (STANISLAS cohort).

Methods: 1506 participants that attended both the visit-1 and visit-4, separated by ≈20 years. Read More

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http://dx.doi.org/10.1530/EJE-20-0246DOI Listing

[Effects of SCD-1 gene overexpression on the content of calcium ion and lipids in duck uterine epithelial cells].

Sheng Wu Gong Cheng Xue Bao 2020 May;36(5):899-907

Key Laboratory of Genetics, Breeding and Reproduction of Plateau Mountain Animals, Ministry of Education, College of Animal Science, Guizhou University, Guiyang 550025, Guizhou China.

Stearoyl-CoAdesaturase-1 (SCD-1) is a key regulator of monounsaturated fatty acid synthesis. It plays a vital role in lipid synthesis and metabolism. Ca²⁺ is an important cation in the body and plays an important role in the organism. Read More

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http://dx.doi.org/10.13345/j.cjb.190309DOI Listing

Decreased serum albumin level indicates poor prognosis of COVID-19 patients: hepatic injury analysis from 2,623 hospitalized cases.

Sci China Life Sci 2020 Jun 18. Epub 2020 Jun 18.

Division of Cardiology, Department of Internal Medicine, and Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430010, China.

Coronavirus disease 2019 (COVID-19) is a global pandemic which has caused numerous deaths worldwide. The present study investigated the roles of hypoproteinemia in the clinical outcome and liver dysfunction of COVID-19 patients. In this retrospective study, we extracted data from 2,623 clinically confirmed adult COVID-19 patients (>18 years old) between January 29, 2020 and March 6, 2020 in Tongji Hospital, Wuhan, China. Read More

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http://dx.doi.org/10.1007/s11427-020-1733-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7306450PMC

Saturated Fats and Health: A Reassessment and Proposal for Food-based Recommendations: JACC State-of -the-Art Review.

J Am Coll Cardiol 2020 Jun 16. Epub 2020 Jun 16.

Departments of Pediatrics and Medicine; University of California, San Francisco, California.

The recommendation to limit dietary saturated fatty acid (SFA) intake has persisted despite mounting evidence to the contrary. Most recent meta-analyses of randomized trials and observational studies found no beneficial effects of reducing SFA intake on cardiovascular disease (CVD) and total mortality, and instead found protective effects against stroke. Although SFAs increase low-density lipoprotein (LDL)-cholesterol, in most individuals, this is not due to increasing levels of small, dense LDL particles, but rather larger LDL which are much less strongly related to CVD risk. Read More

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http://dx.doi.org/10.1016/j.jacc.2020.05.077DOI Listing

Binding of lactoferrin to the surface of low-density lipoproteins modified by myeloperoxidase prevents intracellular cholesterol accumulation by human blood monocytes.

Biochem Cell Biol 2020 Jun 16. Epub 2020 Jun 16.

Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency , Malaya Pirogovskaya str., 1a , Moscow, Russian Federation , 119435 ;

Myeloperoxidase (MPO) is unique heme-containing peroxidase which can catalyze formation of hypochlorous acid (HOCl). Strong interaction of MPO with low-density lipoproteins (LDL) promotes proatherogenic modification of LDL by HOCl. The so-called MPO-modified LDL (Mox-LDL) accumulates in macrophages with formation of foam cells, which is the pathognomic symptom of atherosclerosis. Read More

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http://dx.doi.org/10.1139/bcb-2020-0141DOI Listing

Gender heterogeneity in dyslipidemia prevalence, trends with age and associated factors in middle age rural Chinese.

Lipids Health Dis 2020 Jun 12;19(1):135. Epub 2020 Jun 12.

Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Laboratory of Genetics, Peking University Cancer Hospital and Institute, Beijing, China.

Background: Heterogeneity should be carefully addressed to facilitate establishment of effective population-level blood lipid management. The primary aim of the study was to investigate gender heterogeneity in prevalence of dyslipidemia, including trends with age and associated factors in middle age rural Chinese.

Methods: This is a cross-sectional study based on a baseline investigation of a population-based randomized controlled trial in rural China, involving 26,378 permanent residents of age 45-69. Read More

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http://dx.doi.org/10.1186/s12944-020-01313-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291723PMC

Exploring the causal pathway from body mass index to coronary heart disease: a network Mendelian randomization study.

Ther Adv Chronic Dis 2020 27;11:2040622320909040. Epub 2020 May 27.

Cardiology Department, The First Affiliated Hospital of Sun Yat-sen University, 58 Zhongshan 2nd Road, Guangzhou, 510080, PR China.

Background: We applied a network Mendelian randomization (MR) framework to determine the causal association between body mass index (BMI) and coronary heart disease (CHD) and explored whether glycated hemoglobin (HbA1c) and lipid parameters (total cholesterol, TC; low-density lipoprotein cholesterol, LDL; high-density lipoprotein cholesterol, HDL; triglycerides, TG) serve as causal mediators from BMI to CHD by integrating summary-level genome-wide association study data.

Methods: Network MR analysis, an approach using genetic variants as the instrumental variables for both the exposure and mediator to infer causality was performed. Summary statistics from the GIANT consortium were used ( = 152,893) for BMI, CARDIoGRAMplusC4D consortium data were used ( = 184,305) for CHD, Global Lipids Genetics Consortium data were used ( = 108,363) for TC, LDL, HDL and TG, and MAGIC consortia data were used ( = 108,363) for HbA1c. Read More

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http://dx.doi.org/10.1177/2040622320909040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257848PMC

In-depth Mendelian randomization analysis of causal factors for coronary artery disease.

Sci Rep 2020 Jun 8;10(1):9208. Epub 2020 Jun 8.

Department of Genetics, Cell Biology & Anatomy in Nebraska University Medical Center, Omaha, NE, 68198, USA.

Selecting a set of valid genetic variants is critical for Mendelian randomization (MR) to correctly infer risk factors causing a disease. We here developed a method for selecting genetic variants as valid instrumental variables for inferring risk factors causing coronary artery disease (CAD). Using this method, we selected two sets of single-nucleotide-polymorphism (SNP) genetic variants (SNP338 and SNP363) associated with each of the three potential risk factors for CAD including low density lipoprotein cholesterol (LDL-c), high density lipoprotein cholesterol (HDL-c) and triglycerides (TG) from two independent GWAS datasets. Read More

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http://dx.doi.org/10.1038/s41598-020-66027-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7280530PMC

Role of Rare and Low-Frequency Variants in Gene-Alcohol Interactions on Plasma Lipid Levels.

Circ Genom Precis Med 2020 Jun 8. Epub 2020 Jun 8.

Human Genetics Center, Department of Epidemiology, Human Genetics & Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX.

- Alcohol intake influences plasma lipid levels and such effects may be moderated by genetic variants. We aimed to characterize the role of aggregated rare and low-frequency protein coding variants in gene by alcohol consumption interactions associated with fasting plasma lipid levels. - In the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, fasting plasma triglycerides (TG), and high- and low-density lipoprotein cholesterol (HDL-C and LDL-C) were measured in 34,153 individuals with European ancestry from five discovery studies and 32,277 individuals from six replication studies. Read More

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http://dx.doi.org/10.1161/CIRCGEN.119.002772DOI Listing

SHR-Zbtb16 minimal congenic strain reveals nutrigenetic interaction between Zbtb16 and high-sucrose diet.

Physiol Res 2020 May 29. Epub 2020 May 29.

Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Both prenatal and postnatal excessive consumption of dietary sucrose or fructose was shown to be detrimental to health and contributing to pathogenesis of metabolic syndrome. Our knowledge of genetic determinants of individual sensitivity to sucrose-driven metabolic effects is limited. In this study, we have tested the hypothesis that a variation of metabolic syndrome-related gene, Zbtb16 (Zinc Finger and BTB Domain Containing 16 will affect the reaction to high-sucrose diet (HSD) content in "matched" nutritional exposition settings, i. Read More

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The Relationship of Single Nucleotide Polymorphisms in the Gene with Lipid Profile, Glucose, and Blood Pressure in Mexican Population.

Genet Test Mol Biomarkers 2020 Jul 28;24(7):420-424. Epub 2020 May 28.

Dr. Enrico Stefani Research Unit, University Center for Biomedical Research, Universidad de Colima, Colima, México.

We analyzed the frequencies of the rs222749 G>A, rs222747 G>C, rs224534 G>A, and rs8065080 C > T polymorphisms in the gene and their relationships with biomarkers in a Mexican population. We included 195 students from two Mexican universities (72.3% female and 27. Read More

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http://dx.doi.org/10.1089/gtmb.2019.0213DOI Listing

Genomics of hypertriglyceridemia.

Adv Clin Chem 2020 14;97:141-169. Epub 2020 Feb 14.

Department of Cardiology, Kanazawa University, Graduate School of Medical Sciences, Kanazawa, Japan.

With regard to heritability of phenotypes, the serum triglyceride level is considered to be highly heritable, with approximately 50% of its variability estimated to derive from parents. Thus, approximately 50% could be modifiable via environmental factors, including lifestyle and medications. Lipoproteins are definitive risk factors for atherosclerotic cardiovascular disease (ASCVD); among these, low-density lipoprotein (LDL) particles have been established as a causal factor for the development of ASCVD. Read More

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http://dx.doi.org/10.1016/bs.acc.2019.12.005DOI Listing
February 2020

Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.

Life (Basel) 2020 May 20;10(5). Epub 2020 May 20.

Department of Cardiology I, Medical University of Gdansk, Dębinki 7, 80-211 Gdańsk, Poland.

Background The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin. Read More

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http://dx.doi.org/10.3390/life10050073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281142PMC

A new potential mode of cardiorenal protection of KLOTHO gene variability in type 1 diabetic adolescents.

J Mol Med (Berl) 2020 Jul 20;98(7):955-962. Epub 2020 May 20.

Chair and Clinics of Paediatrics, Diabetology and Endocrinology, Faculty of Medicine, Medical University of Gdańsk, Dębinki 7, 80-211, Gdańsk, Poland.

As the KL-VS haplotype alters secretion and activity of KLOTHO and uric acid (UA) is associated with endothelial dysfunction and inflammation, their mutual links may contribute to microalbuminuria (MA) in patients with type 1 diabetes (T1D). Therefore, we hypothesize that KL-VS polymorphism could be associated with the prevalence of MA in T1D patients, and KL-VS polymorphism could modify physiological functions and pathogenic potential of UA. We have examined 350 patients with T1D. Read More

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http://dx.doi.org/10.1007/s00109-020-01918-7DOI Listing

Pharmacological management of modifiable cardiovascular risk factors (blood pressure and lipids) following diagnosis of myocardial infarction, stroke and diabetes: comparison between population-based studies in Russia and Norway.

BMC Cardiovasc Disord 2020 May 19;20(1):234. Epub 2020 May 19.

Department of Community Medicine, UiT The Arctic University of Norway, 9037, Tromsø, Norway.

Background: Cardiovascular disease (CVD) mortality is substantially higher in Russia than in neighbouring Norway. We aimed to compare blood pressure- and lipid-lowering medication use and proportion meeting treatment targets between general population samples in the two countries in those with CVD and diabetes.

Methods: The study population was adults aged 40-69 years reporting a diagnosis of myocardial infarction (MI), stroke and/or diabetes participating in cross-sectional population-based studies in Russia (Know Your Heart (KYH) 2015-18 N = 626) and Norway (The Tromsø Study 2015-16 (Tromsø 7) N = 1353). Read More

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http://dx.doi.org/10.1186/s12872-020-01513-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7236339PMC

Single-Strand DNA-Like Oligonucleotide Aptamer Against Proprotein Convertase Subtilisin/Kexin 9 Using CE-SELEX: PCSK9 Targeting Selection.

Cardiovasc Drugs Ther 2020 Aug;34(4):475-485

Department of Molecular Biology and Genetics, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, 8174673461, Iran.

Background: Proprotein convertase subtilisin/kexin 9 (PCSK9) serves a key regulatory function in the metabolism of low-density lipoprotein (LDL)-cholesterol (LDL-C) through interaction with the LDL receptor (LDLR) followed by its destruction that results in the elevation of the plasma levels of LDL-C. The aims of the present study were to separate and select a number of single-stranded DNA (ssDNA) aptamers against PCSK9 from a library pool (n > 10) followed by their characterization.

Methods: The aptamers obtained from the DNA-PCSK9 complexes which presented the highest affinity against PCSK9 were separated and selected using capillary electrophoresis evolution of ligands by exponential enrichment (CE-SELEX). Read More

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http://dx.doi.org/10.1007/s10557-020-06986-yDOI Listing

I vitamin D receptor gene polymorphism and serum 25-hydroxyvitamin D in patients with cardiovascular risk.

Arch Med Sci Atheroscler Dis 2019 31;4:e298-e303. Epub 2019 Dec 31.

Research Laboratory in Physiology and Physiopathology (LRPP), Health Technology Centre, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

Introduction: The biological actions of vitamin D are mediated through vitamin D receptor (VDR). Numerous single-nucleotide polymorphisms (SNPs) in the VDR gene have been identified, and some have been associated with cardiovascular disease (CVD) risk factors. This study aims to evaluate the association of five SNPs in the VDR gene with 25-hydroxyvitamin D (25[OH]D) levels in patients with at least one CVD risk factor. Read More

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http://dx.doi.org/10.5114/amsad.2019.91437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7191939PMC
December 2019

Evaluation of LDL receptor and Scavenger Receptor, Class B, Type 1 in the malignant and benign breast tumors: The correlation with the expression of miR-199a-5p, miR-199b-5p and miR-455-5p.

Gene 2020 Jul 30;749:144720. Epub 2020 Apr 30.

Department of Surgery, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Aims: The purpose of present study was to examine the correlations of LDL (LDLR) and HDL (SR-B1) receptors with lipoproteins, miR-199a-5p, miR-199b-5p, miR-455-5p in the malignant and benign breast tumors.

Methods: Total cholesterol-rich-lipoproteins and the receptors were determined using enzymatic-homogeneous and ELISA methods. The expression levels of miRNAs were detected by qRT-PCR. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144720DOI Listing

A Standard Lipid Panel Is Insufficient for the Care of a Patient on a High-Fat, Low-Carbohydrate Ketogenic Diet.

Front Med (Lausanne) 2020 15;7:97. Epub 2020 Apr 15.

Transform Alliance for Health, Newton, MA, United States.

High-fat, low-carbohydrate ketogenic diets have recently become popular for weight loss and the treatment of numerous chronic diseases; however, the general medical community still expresses concern regarding the impact of high-fat diets on serum lipids and cardiovascular risk. Herein, we report on a young man who adopted a ketogenic diet to treat his inflammatory bowel disease. Incidentally, changes in his serum lipids that would be considered adverse by current standards were noted. Read More

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http://dx.doi.org/10.3389/fmed.2020.00097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174731PMC

Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology.

J Atheroscler Thromb 2020 Jun 30;27(6):489-498. Epub 2020 Apr 30.

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

LDL cholesterol is by far the best established "causal" cardiovascular risk. It is distributed normally, and the mean value ranges around 100~120 mg/dl. In terms of preventive cardiology, we now know very well that the lower the LDL cholesterol, the better. Read More

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http://dx.doi.org/10.5551/jat.RV17040DOI Listing

A Promoter Polymorphism (Rs57137919) of ABCG1 Gene Influence on Blood Lipoprotein in Chinese Han Population.

Ann Vasc Surg 2020 Apr 24. Epub 2020 Apr 24.

Department of Medical Genetics & Cell Biology, School of Basic Medical Sciences, Zhengzhou University, Zhengzhou, China. Electronic address:

Background: Adenosine triphosphate-binding cassette subfamily G member 1 (ABCG1) has the function of transporting free intracellular cholesterol to extracellular high-density lipoprotein (HDL) particles, which play a crucial role in atherosclerosis. The goal of this study is to examine the relationship between the polymorphisms of the ABCG1 gene promoter region and ischemic stroke.

Methods: In the present study, a case-control association study was designed to identify 3 single-nucleotide polymorphisms (SNPs; rs5713919, rs1378577, and rs1893590), which were located in the promoter region of ABCG1 gene by kompetitive allele-specific polymerase chain reaction genotyping approach. Read More

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http://dx.doi.org/10.1016/j.avsg.2020.04.020DOI Listing
April 2020
1.029 Impact Factor

A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.

J Clin Lipidol 2020 May - Jun;14(3):346-351.e9. Epub 2020 Mar 24.

Department of Molecular Innovation in Lipidology, National Cerebral and Cardiovascular Center Research Institute, Suita, Japan.

Background: Little data exist on the pathogenic mutations of LDL receptor in Japanese familial hypercholesterolemia (FH).

Objective: We aimed to catalog the pathogenic mutations of LDL receptor gene in the 2 major Japanese FH-care centers (Kanazawa University and National Cerebral and Cardiovascular Center Research Institute), where genetic testing of FH has been performed centrally on requests from institutes all over Japan during more than past 2 decades.

Methods: 796 FH subjects from 472 families who had nonsynonymous mutations in LDL receptor gene were included in this study. Read More

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http://dx.doi.org/10.1016/j.jacl.2020.03.002DOI Listing

The Association of Small Dense Low-Density Lipoprotein Cholesterol and Coronary Heart Disease in Subjects at High Cardiovascular Risk.

J Atheroscler Thromb 2020 Apr 18. Epub 2020 Apr 18.

Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University.

Aim: The present study aims to investigate the association between serum small dense low-density lipoprotein (sdLDL) cholesterol level and the development of coronary heart disease (CHD) in subjects at high cardiovascular risk.

Methods: A total of 3,080 participants without prior cardiovascular disease (CVD), aged ≥ 40 years, were followed up for a median of 8.3 years, which were divided into two groups, those with serum sdLDL cholesterol levels of <35 mg/dL or ≥ 35 mg/dL. Read More

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http://dx.doi.org/10.5551/jat.55350DOI Listing

The association of low-density lipoprotein cholesterol with elevated arterial stiffness in adolescents and young adults with type 1 and type 2 diabetes: The SEARCH for Diabetes in Youth study.

Pediatr Diabetes 2020 Aug 5;21(5):863-870. Epub 2020 May 5.

Department of Epidemiology, Colorado School of Public Health, University of Colorado Denver, Aurora, Colorado, USA.

Aim: Our aim was to explore the relationship of Low-Density Lipoprotein Cholesterol (LDL-C) with subclinical cardiovascular disease (CVD) in youth with T1D and T2D. We hypothesized the association of LDL-C with elevated arterial stiffness (AS) would be partially accounted by the co-occurrence of other CVD factors.

Method: We included 1376 youth with T1D and 157 with T2D from the SEARCH study. Read More

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http://dx.doi.org/10.1111/pedi.13021DOI Listing

Signaling Pathways Potentially Responsible for Foam Cell Formation: Cholesterol Accumulation or Inflammatory Response-What is First?

Int J Mol Sci 2020 Apr 14;21(8). Epub 2020 Apr 14.

Department of Biochemistry & Molecular Biology, Nippon Medical School, Tokyo 113-8602, Japan.

Accumulation of lipid-laden (foam) cells in the arterial wall is known to be the earliest step in the pathogenesis of atherosclerosis. There is almost no doubt that atherogenic modified low-density lipoproteins (LDL) are the main sources of accumulating lipids in foam cells. Atherogenic modified LDL are taken up by arterial cells, such as macrophages, pericytes, and smooth muscle cells in an unregulated manner bypassing the LDL receptor. Read More

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http://dx.doi.org/10.3390/ijms21082716DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216009PMC

The abnormal lipid profile in obesity and coronary heart disease (CHD) in Pakistani subjects.

Lipids Health Dis 2020 Apr 14;19(1):73. Epub 2020 Apr 14.

Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54690, Pakistan.

Background: Obesity has become global epidemic in the last three decades, whereas Coronary Heart Disease (CHD) still remains the most important cause of mortality in the world. The study was aimed at determining the pattern of lipid profile for the obese and CHD population in Pakistan. As obesity is a strong predisposing risk factor for CHD, we aimed to analyze the lipid parameters in both conditions and compare them with the healthy controls of the same ethnicity. Read More

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http://dx.doi.org/10.1186/s12944-020-01248-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158030PMC

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.

PLoS Genet 2020 04 13;16(4):e1008629. Epub 2020 Apr 13.

Department of Medicine, Harvard Medical School, Boston, Massachusetts, United States of America.

Analyzing 12,361 all-cause cirrhosis cases and 790,095 controls from eight cohorts, we identify a common missense variant in the Mitochondrial Amidoxime Reducing Component 1 gene (MARC1 p.A165T) that associates with protection from all-cause cirrhosis (OR 0.91, p = 2. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008629DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7200007PMC

Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage.

Ann Neurol 2020 Jul 7;88(1):56-66. Epub 2020 May 7.

Center for Genomic Medicine, Massachusetts General Hospital (MGH), Boston, MA, USA.

Objective: Observational studies point to an inverse correlation between low-density lipoprotein (LDL) cholesterol levels and risk of intracerebral hemorrhage (ICH), but it remains unclear whether this association is causal. We tested the hypothesis that genetically elevated LDL is associated with reduced risk of ICH.

Methods: We constructed one polygenic risk score (PRS) per lipid trait (total cholesterol, LDL, high-density lipoprotein [HDL], and triglycerides) using independent genomewide significant single nucleotide polymorphisms (SNPs) for each trait. Read More

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http://dx.doi.org/10.1002/ana.25740DOI Listing

The Multispecies Probiotic Effectively Reduces Homocysteine Concentration in Obese Women: A Randomized Double-Blind Placebo-Controlled Study.

J Clin Med 2020 Apr 2;9(4). Epub 2020 Apr 2.

Department of Treatment of Obesity, Metabolic Disorders and Clinical Dietetics. University of Medical Sciences in Poznań, Szamarzewskiego Str. 84, 60-569 Poznan, Poland.

Dysregulated metabolism of homocysteine (Hcy) is associated with obesity. Supplementation with probiotics can potentially be a natural therapeutic method for metabolic disorders. The precise mechanism in which microbiota affect Hcy metabolism in obese individuals is still unknown. Read More

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http://dx.doi.org/10.3390/jcm9040998DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230928PMC

[Familial hypercholesterolemia in children and adolescents].

Rev Prat 2019 Nov;69(9):1001-1004

Service de nutrition et gastroentérologie pédiatrique, hôpital Trousseau, AP-HP, Paris, France.

Familial hypercholesterolemia in children and adolescents. Familial hypercholesterolemia is a common genetic disease. The dominant autosomal heterozygous form is most common in relation to the pathogenic mutation of a single gene responsible for a significant rise in LDL-cholesterol levels in childhood. Read More

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November 2019

The haemochromatosis gene Hfe and Kupffer cells control LDL cholesterol homeostasis and impact on atherosclerosis development.

Eur Heart J 2020 Mar 30. Epub 2020 Mar 30.

Department of Internal Medicine II, Medical University of Innsbruck, Anichstraße 35, 6020 Innsbruck, Austria.

Aims: Imbalances of iron metabolism have been linked to the development of atherosclerosis. However, subjects with hereditary haemochromatosis have a lower prevalence of cardiovascular disease. The aim of our study was to understand the underlying mechanisms by combining data from genome-wide association study analyses in humans, CRISPR/Cas9 genome editing, and loss-of-function studies in mice. Read More

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http://dx.doi.org/10.1093/eurheartj/ehaa140DOI Listing

Non-statin interventions in the prevention of cardiovascular events: Sex-based meta-analysis.

Prog Cardiovasc Dis 2020 Mar 26. Epub 2020 Mar 26.

Cardiac Rehabilitation and Preventive Cardiology, John Ochsner Heart and Vascular Institute, Ochsner Clinical School - The University of Queensland School of Medicine, New Orleans, LA, USA.

Objective: To explore the sex-specific association of non-statin classes of drugs in reducing cardiovascular outcomes.

Methods: Published data search up to November 2019 reporting primary outcomes that approximate with major vascular events (MVEs) after treatment with non-statin group of drugs was performed. The primary outcome was the sex-specific association with MVEs. Read More

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http://dx.doi.org/10.1016/j.pcad.2020.03.012DOI Listing
March 2020
2.418 Impact Factor

Atherosclerosis, Inflammation, and Genetics - And you Thought it Was Just LDL-cholesterol.

Arq Bras Cardiol 2020 02;114(2):273-274

Universidade de São Paulo (USP), Faculdade de Medicina do Hospital das Clínicas do Instituto do Coração (Incor), São Paulo, SP - Brazil.

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http://dx.doi.org/10.36660/abc.20200038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7077584PMC
February 2020

Delisting : The Rise and Fall of a Putative Hypercholesterolemia Gene.

Arterioscler Thromb Vasc Biol 2020 04 25;40(4):847-849. Epub 2020 Mar 25.

Departments of Internal Medicine and Molecular Genetics, Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas (J.D.H.).

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http://dx.doi.org/10.1161/ATVBAHA.120.314006DOI Listing

Carotid intima-media thickness (IMT) in patients with severe familial and non-familial hypercholesterolemia: The effect of measurement site on the IMT correlation with traditional cardiovascular risk factors and calcium scores.

Cardiol J 2020 Mar 24. Epub 2020 Mar 24.

1st Department of Cardiology, Medical University of Gdansk.

Background: The carotid intima-media thickness (IMT) measurement may be carried out proximally (pIMT) or distally (dIMT) in relation to the bulb of the common carotid artery which has significant implications on the results and correlation with risk factors. The aim of the study was to compare the pIMT and dIMT in patients with familial hypercholesterolemia confirmed by genetic testing (FH group) and patients with severe non-familial hypercholesterolemia, with negative results of genetic testing (NFH group) and to determine the correlation of results with traditional atherosclerotic risk factors and calcium scores.

Methods: A total of 86 FH and 50 NFH patients underwent pIMT and dIMT measurements of both carotid arteries as well as computed tomography (CT) with coronary and thoracic aorta calcium scoring. Read More

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http://dx.doi.org/10.5603/CJ.a2020.0032DOI Listing

Health outcomes associated with vegetarian diets: An umbrella review of systematic reviews and meta-analyses.

Clin Nutr 2020 Mar 11. Epub 2020 Mar 11.

University of Lorraine, INSERM UMR_S 1256, Nutrition, Genetics, and Environmental Risk Exposure (NGERE), Faculty of Medicine of Nancy, F-54000, Nancy, France; Department of Molecular Medicine, Division of Biochemistry, Molecular Biology, and Nutrition, University Hospital of Nancy, F-54000, Nancy, France; Reference Center for Inborn Errors of Metabolism (ORPHA67872), University Hospital of Nancy, F-54000, Nancy, France. Electronic address:

Background: Several meta-analyses evaluated the association between vegetarian diets and health outcomes. To integrate the large amount of the available evidence, we performed an umbrella review of published meta-analyses that investigated the association between vegetarian diets and health outcomes.

Methods: We performed an umbrella review of the evidence across meta-analyses of observational and interventional studies. Read More

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http://dx.doi.org/10.1016/j.clnu.2020.02.037DOI Listing

Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.

PLoS Med 2020 03 23;17(3):e1003062. Epub 2020 Mar 23.

Medical Research Council Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom.

Background: Circulating lipoprotein lipids cause coronary heart disease (CHD). However, the precise way in which one or more lipoprotein lipid-related entities account for this relationship remains unclear. Using genetic instruments for lipoprotein lipid traits implemented through multivariable Mendelian randomisation (MR), we sought to compare their causal roles in the aetiology of CHD. Read More

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http://dx.doi.org/10.1371/journal.pmed.1003062DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089422PMC

Tune out and turn in: the influence of television viewing and sleep on lipid profiles in children.

Int J Obes (Lond) 2020 May 13;44(5):1173-1184. Epub 2020 Mar 13.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

Background/objectives: Physical activity is beneficial to lipid profiles; however, the association between sedentary behavior and sleep and pediatric dyslipidemia remains unclear. We aimed to investigate whether sedentary behavior or sleep predicted lipid profiles in children over a 2-year period.

Subjects/methods: Six hundered and thirty children from the QUALITY cohort, with at least one obese parent, were assessed prospectively at ages 8-10 and 10-12 years. Read More

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http://dx.doi.org/10.1038/s41366-020-0527-5DOI Listing