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Circulation 2019 Feb 14. Epub 2019 Feb 14.

Department of Epidemiology & Population Health, Albert Einstein College of Medicine, UNITED STATES.

Background: Ceramides have been implicated in the pathophysiology of HIV infection and cardiovascular disease (CVD). However, no study, to our knowledge, has evaluated circulating ceramide levels in association with subclinical CVD risk among HIV-infected individuals.

Methods: Plasma levels of four ceramide species (C16:0, C22:0, C24:0 and C24:1) were measured among 398 women (73% HIV+) and 339 men (68% HIV+) without carotid artery plaques at baseline from the Women's Interagency HIV Study and the Multicenter AIDS Cohort Study. Read More

Wellcome Open Res 2018 1;3:114. Epub 2019 Feb 1.

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.

Genome-wide association studies have identified genetic variants associated with coronary artery disease (CAD) in adults - the leading cause of death worldwide. It often occurs later in life, but variants may impact CAD-relevant phenotypes early and throughout the life-course. Cohorts with longitudinal and genetic data on thousands of individuals are letting us explore the antecedents of this adult disease. Read More

Nutr Metab Cardiovasc Dis 2019 Jan 9. Epub 2019 Jan 9.

Saha Cardiovascular Research Center, University of Kentucky, Lexington, KY, 40536, USA; Department of Pharmacology & Nutritional Sciences, University of Kentucky, Lexington, KY, 40536, USA. Electronic address:

Background And Aims: Heparin-binding EGF-like growth factor (HB-EGF) is a representative EGF family member that interacts with EGFR under diverse stress environment. Previously, we reported that the HB-EGF-targeting using antisense oligonucleotide (ASO) effectively suppressed an aortic aneurysm in the vessel wall and circulatory lipid levels. In this study, we further examined the effects of the HB-EGF ASO administration on the development of hyperlipidemia-associated atherosclerosis using an atherogenic mouse model. Read More

PLoS One 2019 6;14(2):e0211690. Epub 2019 Feb 6.

Department of Cardiology, Bispebjerg and Frederiksberg Hospital, Bispebjerg, Denmark.

Background: The relation between burden of risk factors, familial coronary artery disease (CAD), and known genetic variants underlying CAD and low-density lipoprotein cholesterol (LDL-C) levels is not well-explored in clinical samples. We aimed to investigate the association of these measures with age at onset of CAD requiring revascularizations in a clinical sample of patients undergoing first-time coronary angiography.

Methods: 1599 individuals (mean age 64 years [min-max 29-96 years], 28% women) were genotyped (from blood drawn as part of usual clinical care) in the Copenhagen area (2010-2014). Read More

Ann Neurol 2019 Feb 5. Epub 2019 Feb 5.

Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, 20892, USA.

Objective: To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS).

Methods: Linkage disequilibrium score regression and Mendelian randomization were applied in a large-scale, data-driven manner to explore genetic correlations and causal relationships between > 700 phenotypic traits and ALS. Exposures consisted of publicly available genome-wide association studies (GWASes) summary statistics from MR Base and LD-hub. Read More

Obes Surg 2019 Feb 5. Epub 2019 Feb 5.

Shanghai Diabetes Institute, Shanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Centre for Diabetes, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, 600 Yishan Road, Shanghai, 200233, China.

Objectives: Bariatric surgery is emerging as the most effective treatment option for patients with obesity. Hypothalamic arcuate nucleus plays an important role in metabolic homeostasis. However, the influence of mutations related to the feeding center on weight loss after bariatric surgery is still unclear. Read More

Cardiovasc Res 2019 Jan 31. Epub 2019 Jan 31.

Ruddy Canadian Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, Canada.

Aims: To identify genetic variants that have a regulatory impact on circulating miRNAs and to connect genetic risk to blood traits/biomarkers through the circulating miRNAs.

Methods And Results: Leveraging miRNA-Seq data and the 1000 Genomes imputed genotypes, we carried out genome wide association analysis for SNPs that regulate the expression of circulating miRNAs in a sample of 710 unrelated subjects of European ancestry. Wherever possible, we used data from the Framingham and the Geuvadis studies to replicate our findings. Read More

Molecules 2019 Jan 30;24(3). Epub 2019 Jan 30.

Department of Molecular Biology and Human Genetics, Tzu Chi University, Hualien 970, Taiwan.

Pigeon pea ( (L.) Millsp.) is a legume crop consumed as an indigenous vegetable in the human diet and a traditional medicinal plant with therapeutic properties. Read More

Am J Kidney Dis 2019 Jan 24. Epub 2019 Jan 24.

Departments of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Departments of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Departments of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; The Penn Cardiovascular Institute, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Institute for Translational Medicine and Therapeutics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Rationale & Objective: A large residual risk for atherosclerotic cardiovascular disease (ASCVD) remains in the setting of chronic kidney disease (CKD) despite treatment with statins. We sought to evaluate the associations of lipid and apolipoprotein levels with risk for ASCVD in individuals with CKD.

Study Design: Prospective cohort study. Read More

Nat Commun 2019 01 25;10(1):425. Epub 2019 Jan 25.

State Key Laboratory of Proteomics, National Center of Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing, 100850, China.

Atherosclerosis-related cardiovascular diseases are the leading cause of mortality worldwide. Macrophages uptake modified lipoproteins and transform into foam cells, triggering an inflammatory response and thereby promoting plaque formation. Here we show that casein kinase 2-interacting protein-1 (CKIP-1) is a suppressor of foam cell formation and atherosclerosis. Read More

Nat Commun 2019 01 22;10(1):376. Epub 2019 Jan 22.

Icahn School of Medicine at Mount Sinai, The Charles Bronfman Institute for Personalized Medicine, New York, 10029, NY, USA.

Many genetic loci affect circulating lipid levels, but it remains unknown whether lifestyle factors, such as physical activity, modify these genetic effects. To identify lipid loci interacting with physical activity, we performed genome-wide analyses of circulating HDL cholesterol, LDL cholesterol, and triglyceride levels in up to 120,979 individuals of European, African, Asian, Hispanic, and Brazilian ancestry, with follow-up of suggestive associations in an additional 131,012 individuals. We find four loci, in/near CLASP1, LHX1, SNTA1, and CNTNAP2, that are associated with circulating lipid levels through interaction with physical activity; higher levels of physical activity enhance the HDL cholesterol-increasing effects of the CLASP1, LHX1, and SNTA1 loci and attenuate the LDL cholesterol-increasing effect of the CNTNAP2 locus. Read More

Nord J Psychiatry 2019 Jan 17:1-8. Epub 2019 Jan 17.

a Psychiatric Genetics Unit, Department of Psychiatry , Poznan University of Medical Sciences , Poznan , Poland.

Background: Neurotrophin-3 (NTF3) and neurotrophin-4 (NTF4) play a crucial role in the neurodevelopment, differentiation, survival, and protection of neurons in different brain regions. Schizophrenia and depression are highly associated with metabolic abnormalities. Longitudinal and cross-sectional comparisons of NTF3 and NTF4 levels, as well as clinical and metabolic parameters, were studied in schizophrenia, first-episode depression, and control groups. Read More

PLoS One 2019 10;14(1):e0210114. Epub 2019 Jan 10.

Novo Nordisk Foundation Center for Basic Metabolic Research, Section of Metabolic Genetics, Faculty of Health Sciences, University of Copenhagen, Copenhagen, Denmark.

Background: PPP1R3B has been suggested as a candidate gene for monogenic forms of diabetes as well as type 2 diabetes (T2D) due to its association with glycaemic trait and its biological role in glycogen synthesis.

Objectives: To study if rare missense variants in PPP1R3B increase the risk of maturity onset diabetes of the young (MODY), T2D or affect measures of glucose metabolism.

Method: Targeted resequencing of PPP1R3B was performed in 8,710 samples; MODY patients with unknown etiology (n = 54), newly diagnosed patients with T2D (n = 2,930) and population-based control individuals (n = 5,726, of whom n = 4,569 had normal glucose tolerance). Read More

Arthritis Rheumatol 2019 Jan 7. Epub 2019 Jan 7.

Department of Clinical Sciences in Malmö, Lund University, Sweden.

Objective: To investigate the causal role of cardiometabolic risk factors in osteoarthritis (OA) using associated genetic variants.

Methods: We studied 27691 adults from the Malmö Diet and Cancer Study (MDCS) and replicated novel findings among 376435 adults from the UK Biobank. Trait-specific polygenic risk scores for LDL- and HDL-cholesterol (LDLC, HDLC), triglycerides (TG), BMI, fasting plasma glucose (FPG) and systolic blood pressure (SBP) were used to test the associations of genetically predicted elevations in each trait with incident OA-diagnosis (n=3559), OA-joint replacement (n=2780), or both (total-OA, n=4226) in Mendelian randomization (MR) analyses in MDCS, and with self-reported and/or hospital diagnosed OA (n=65213) in the UK Biobank. Read More

Indian Heart J 2018 Dec 5;70 Suppl 3:S146-S156. Epub 2018 Sep 5.

Institute of Genomics and Integrative Biology, New Delhi, India.

Background: Incidence rate of acute myocardial infarction (MI) has increased in younger population over the years. The young patients have a different risk profile, presentation, and prognosis than the elderly. Hence, it is essential to understand the risk factors in young patients for proper treatment. Read More

Circulation 2018 Nov 11. Epub 2018 Nov 11.

Massachusetts General Hospital, Boston, MA.

Background: The relative prevalence and clinical importance of monogenic mutations related to familial hypercholesterolemia and of high polygenic score (cumulative impact of many common variants) pathways for early-onset myocardial infarction remain uncertain. Whole genome sequencing enables simultaneous ascertainment of both monogenic mutations and polygenic score for each individual.

Methods: We performed deep-coverage whole genome sequencing of 2,081 patients from four racial subgroups hospitalized in the U. Read More

Stroke 2018 Nov 21:STROKEAHA118023456. Epub 2018 Nov 21.

Department of Clinical Medicine, University of Tromsø, Norway (A.H.).

Background and Purpose- Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density lipoprotein) cholesterol and risk of coronary heart disease. Whether FH increases the risk of cerebrovascular disease, including ischemic stroke, is debated. Accordingly, we studied the incidence of cerebrovascular disease in a cohort of people with genetically verified FH compared with the entire Norwegian population and examined whether people in this cohort with previous cohort had increased risk of cerebrovascular disease. Read More

OMICS 2018 12;22(12):749-758

8 Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.

Identification of genetic/genomic factors contributing to dyslipidemia is of great interest to prevention and reduction of the onset and burden of cardiovascular diseases in Africa. This systematic review summarizes available data on genetic variants associated with dyslipidemia in populations within Africa. A PubMed and EMBASE database search was conducted to identify all studies published until June 2018 on genetic susceptibility to dyslipidemia in African-based populations, excluding familial hypercholesterolemia. Read More

Circ Genom Precis Med 2018 Dec;11(12):e002385

Department of Vascular Medicine, Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (L.F.R., M.L.H., G.M.D.-T., G.K.H.).

Background: Familial hypercholesterolemia (FH) is an inherited disorder characterized by high plasma LDL-C (low-density lipoprotein-cholesterol) levels. The vast majority of FH patients carry a mutation in the coding region of LDLR, APOB, or PCSK9. We set out to identify the culprit genetic defect in a large family with clinical FH, in whom no mutations were identified in the coding regions of these FH genes. Read More

Medicine (Baltimore) 2018 Dec;97(50):e13521

School of Preclinical Medicine, and Nanchong Key Laboratory of Metabolic Drugs and Biological Products.

Background: Studies on the associations of the adenosine triphosphate-binding cassette transporter A1 gene (ABCA1) rs2230806, rs2230808, and rs2066714 polymorphisms with plasma lipid levels have reported apparently conflicting findings. This meta-analysis aimed to clarify the relationships between the 3 polymorphisms and fasting lipid levels.

Methods: A comprehensive search of the literature was carried out by using the databases including Medline, Google Scholar, Web of Science, Embase, Cochrane Library, CNKI, Wanfang, and VIP. Read More

Intern Med 2018 15;57(24):3551-3557. Epub 2018 Dec 15.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan.

The low-density lipoprotein-cholesterol (LDL-C) level of a 38-year-old man diagnosed with acute coronary syndrome was 257 mg/dL. The administration of a proprotein convertase subtilisin-kexin type 9 (PCSK9) antibody in addition to rosuvastatin plus ezetimibe was initiated, reducing his LDL-C level to 37 mg/dL. A genetic analysis revealed both an LDL receptor (LDLR) mutation and a PCSK9 V4I mutation. Read More

Eat Weight Disord 2018 Dec 15. Epub 2018 Dec 15.

Dietetics and Clinical Nutrition Laboratory, Department of Public Health, Experimental and Forensic Medicine, University of Pavia, Pavia, Italy.

Purpose: Oxidized LDL cholesterol (oxLDL) has been considered as a sensor of oxidative stress (OS) in childhood obesity. We integrated and related our oxLDL existing results previously assessed in overweight/obese children to lifestyle variables to investigate OS-related lifestyle variables.

Methods: 178 Caucasian children/adolescents have been evaluated and according to BMI percentiles have been classified as normal weight (BMI < 75th); overweight (BMI 75-97th) and obese (BMI > 97th). Read More

Clin Chim Acta 2019 Mar 13;490:1-5. Epub 2018 Dec 13.

Division of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan.

Lipoproteins are one of the major risk factors for atherosclerotic cardiovascular disease (ASCVD), among which, low-density lipoprotein (LDL) particles have been definitively shown to be causally associated with the development of ASCVD. Additionally, the concept of remnant lipoproteins has emerged as lipoprotein metabolism has been fully investigated. The principal concept of this lipoprotein category is triglyceride-rich lipoproteins significantly increase at the postprandial state. Read More

Lipids Health Dis 2018 Dec 13;17(1):281. Epub 2018 Dec 13.

Department of Cardiology, Affiliated Hospital of North Sichuan Medical College, Nanchong, 637000, People's Republic of China.

Background: Several meta-analyses have demonstrated that the rs662 polymorphism in Paraoxonase 1 gene (PON1) gene is associated with coronary heart disease (CHD). However, it is still uncertain whether this polymorphism is associated with the plasma levels of oxidized low-density lipoprotein (Ox-LDL) and lipids. This meta-analysis is aimed to clarify the relationships between the rs662 polymorphism and plasma levels of Ox-LDL and lipids. Read More

Lipids Health Dis 2018 Dec 13;17(1):285. Epub 2018 Dec 13.

Genomics and Biomarkers Unit, National Institute for Health and Welfare, FI-00251, Helsinki, Finland.

Background: The focus of studies on high-density lipoproteins (HDL) has shifted from HDL-cholesterol (HDL-C) to HDL function. We recently demonstrated that low USF1 expression in mice and humans associates with high plasma HDL-C and low triglyceride levels, as well as protection against obesity, insulin resistance, and atherosclerosis. Here, we studied the impact of USF1 deficiency on HDL functional capacity and macrophage atherogenic functions, including inflammation, cholesterol efflux, and cholesterol accumulation. Read More

J Biosci 2018 Dec;43(5):969-983

Guangdong Key Laboratory of Pharmaceutical Bioactive Substances, Guangzhou 510006, Guangdong, China.

The study was designed to explore the beneficial effect of Musca domestica larvae extract (MDLE) on a metabolic disorder using a diabetic rat model. Streptozotocin-induced diabetic rats were treated with or without MDLE. Blood glucose, insulin levels, lipid profiles, and oxidative stress markers were measured. Read More

Oxid Med Cell Longev 2018 5;2018:1752940. Epub 2018 Nov 5.

Department of Biomedical and Specialist Surgical Sciences, Section of Medical Biochemistry, Molecular Biology and Genetics, University of Ferrara, Via Luigi Borsari 46, 44121 Ferrara, Italy.

Paraoxonase-1 (PON1) and lipoprotein phospholipase A2 (Lp-PLA2) may exert an important protective role by preventing the oxidative transformation of high- and low-density lipoproteins (HDL and LDL, respectively). The activity of both enzymes is influenced by lipidome and proteome of the lipoprotein carriers. T2DM typically presents significant changes in the molecular composition of the lipoprotein subclasses. Read More

Am J Chin Med 2018 11;46(8):1841-1859. Epub 2018 Dec 11.

† School of Traditional Chinese Medicine, Southern Medical University, Guangzhou 510515, P. R. China.

Cholesterol metabolism becomes imbalanced during the formation of macrophage-derived foam cells. Pre-B-cell colony-enhancing factor (PBEF) has recently been found to affect lipid deposition and inflammation in atherosclerosis. Here, we aimed to study the effects and molecular mechanism of Polydatin on atherosclerosis in ApoE-knockout (ApoE ) mice. Read More

Gene 2019 Mar 7;688:151-154. Epub 2018 Dec 7.

Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka 1000, Bangladesh. Electronic address:

Aims: ATP-binding cassette transporter 1 (ABCA1) gene polymorphism has been reported as one of the genetic risk factors for T2DM in various populations with conflicting results. The aim of this study is to investigate the association of ABCA1 C69T polymorphism and lipid profile with T2DM in Bangladeshi population.

Materials And Methods: A total of 102 T2DM subjects and 98 healthy controls were recruited and their genotypes for ABCA1 gene polymorphisms were determined based on the PCR-RFLP technique. Read More

Lipids Health Dis 2018 Dec 8;17(1):279. Epub 2018 Dec 8.

Department of Cardiology, Affiliated Zhongshan Hospital of Dalian University, No. 6 Jiefang Street, Dalian, China.

Background: Hyperlipidemia is a well-established risk factor for cardiac damage, which can lead to cardiovascular diseases. Many studies have shown that Coenzyme Q10(CoQ10) protects against cardiac damage in vivo. The aim of this study was to investigate the possible protective effects of CoQ10 against cardiac damage in apolipoprotein E-deficient (ApoE) mice. Read More

Circ Genom Precis Med 2018 Dec;11(12):e002239

Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia (B.F.V.).

Background: Plasma lipid levels are heritable and genetically associated with risk of coronary artery disease (CAD). However, genome-wide association studies (GWAS) routinely analyze these traits independent of one another. Joint GWAS for two related phenotypes can lead to a higher powered analysis to detect variants contributing to both traits. Read More

J Vis Exp 2018 Nov 17(141). Epub 2018 Nov 17.

Interdisciplinary Stem Cell Institute, University of Miami Leonard M. Miller School of Medicine; Department of Medicine, Division of Cardiology, University of Miami Leonard M. Miller School of Medicine; Vascular Biology Institute, University of Miami Leonard M. Miller School of Medicine; Peggy and Harold Katz Family Drug Discovery Center, University of Miami Leonard M. Miller School of Medicine;

The regulation of LDL cholesterol uptake through LDLR-mediated endocytosis is an important area of study in various major pathologies including metabolic disorder, cardiovascular disease, and kidney disease. Currently, there is no available method to assess LDL uptake while simultaneously monitoring for health of the cells. The current study presents a protocol, using a live cell imaging analysis system, to acquire serial measurements of LDL influx with concurrent monitoring for cell health. Read More

Cell J 2019 Apr 18;21(1):86-91. Epub 2018 Nov 18.

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran. Electronic

Objective: APOB-related familial hypercholesterolemia (FH) is the most common hereditary hyperchlosterolemia with an autosomal dominant pattern. A number of APOB variants are the most important risk factors for hyperchlosterolemia. APOB is a large glycoprotein that plays an important role in the metabolism of lipoproteins in the human body. Read More

J Cell Biochem 2018 Dec 3. Epub 2018 Dec 3.

Department of Medical Laboratory Technology, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background/aims: The risk of type 2 diabetes (T2D) is determined by a combination of genetic and environmental factors. Multiple studies have proposed that long noncoding RNAs (lncRNAs) are crucial molecules in regulating several biological processes and complex diseases. The study was aimed at investigating the association between the expression levels of lncRNA VIM-AS1, lncRNA CTBP1-AS2, and T2D susceptibility. Read More

Lipids Health Dis 2018 Dec 3;17(1):274. Epub 2018 Dec 3.

Department of Medical Biochemistry, and Nanchong Key Laboratory of Metabolic Drugs and Biological Products, North Sichuan Medical College, Nanchong, 637000, People's Republic of China.

Background: Previous studies have investigated the associations of paraoxonase 1 (PON1) rs854560 polymorphism with plasma lipid levels, but the results are inconclusive. This meta-analysis aimed to clarify the associations of the rs854560 polymorphism with plasma lipid levels.

Methods: A comprehensive search of the literature was carried out by using the databases which include Medline, Google Scholar, Web of Science, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang and VIP database up till August 2018. Read More

Front Endocrinol (Lausanne) 2018 15;9:677. Epub 2018 Nov 15.

Department of Epidemiology and Health Statistics, Public Health College, Qingdao University, Qingdao, China.

Dyslipidemia represents a strong and independent risk factor for cardiovascular disease. Plasma cholesterol, such as total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), and high density lipoprotein cholesterol (HDL-C), is the common indicator of diagnosing dyslipidemia. Here based on 382 Chinese twin pairs, we explored the magnitude of genetic impact on TC, HDL-C, LDL-C variation and further searched for genetic susceptibility loci for them using genome-wide association study (GWAS). Read More

Gene 2019 Feb 24;685:211-221. Epub 2018 Nov 24.

Department of Genetics, Federal University of Paraná, Francisco H. dos Santos, 210 Jardim das Américas, 81531-970 Curitiba, Paraná, Brazil.

Recent evidences had shown activation of TLR (toll-like receptors) and NLR (nod-like receptors) in response to imbalance in nutrients intake, such as lipid and glucose. The main aim of this study was to investigate possible associations between 11 SNPs in TLR2, TLR4, NLRC4, CARD8 and NEK7 genes and lipid and glucose metabolism. Sample was composed by healthy children and adolescents (n = 158) and adults (n = 115). Read More

Psychiatry Res 2018 Nov 19;271:89-95. Epub 2018 Nov 19.

Psychiatric Genetics Unit, Department of Psychiatry, Poznan University of Medical Sciences, Poznan, Poland.

Brain-derived neurotrophic factor (BDNF) has been implicated in the pathogenesis of psychiatric disorders. Schizophrenia is associated with metabolic abnormalities and BDNF regulates energy homeostasis and glucose metabolism in peripheral tissues. The aim of this study was to examine serum levels of BDNF in schizophrenic women during 8 weeks of treatment and control group, and its correlation with clinical and metabolic parameters. Read More

Atherosclerosis 2018 Nov 12. Epub 2018 Nov 12.

Wolfson College, University of Oxford, Oxford, UK.

Background And Aims: The International Atherosclerosis Society (IAS) has proposed that patients with "severe" FH (SFH) would warrant early and more aggressive cholesterol-lowering treatment such as with PCSK9 inhibitors. SFH is diagnosed if LDL-cholesterol (LDLC) > 10 mmol/L, or LDLC >8.0 mmol/L plus one high-risk feature, or LDLC >5 mmol/L plus two high-risk features. Read More

Nutrients 2018 Nov 17;10(11). Epub 2018 Nov 17.

Division of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medical Sciences, 13-1 Takara-machi, Kanazawa 920-8641, Japan.

Lipoproteins are a major risk factor for atherosclerotic cardiovascular diseases (ASCVD). Among the lipoproteins, low-density lipoproteins (LDL) have been shown to be causally associated with ASCVD development. In contrast, triglycerides or triglyceride-rich lipoproteins receive less attention than LDL because there is little definite evidence from randomized controlled trials. Read More

Hum Mol Genet 2018 Nov 16. Epub 2018 Nov 16.

Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.

Total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) are heritable risk factors for cardiovascular disease, yet the molecular mechanisms underlying the majority of blood lipid-associated GWAS signals remain elusive. One association signal is located in intron 3 of VLDLR; rs3780181-A is a risk allele associated (P≤2x10-9) with increased TC and LDL-C. We investigated variants, genes, and mechanisms underlying this association signal. Read More

Hum Mol Genet 2019 Feb;28(4):688-697

Department of Biostatistics, Center for Statistical Genetics, University of Michigan, Ann Arbor, MI, USA.

Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disorder that is predicted to increase across the globe by ~70% in the following decades. Understanding the disease causal mechanism underlying ALS and identifying modifiable risks factors for ALS hold the key for the development of effective preventative and treatment strategies. Here, we investigate the causal effects of four blood lipid traits that include high-density lipoprotein, low-density lipoprotein (LDL), total cholesterol and triglycerides on the risk of ALS. Read More

Clin Cardiol 2019 Jan 30;42(1):101-110. Epub 2018 Nov 30.

Boston Heart Diagnostics, Framingham, Massachusetts.

Background: Over a 14-year period, age-adjusted high total cholesterol (≥240 mg/dL) in the United States declined from 18.3% in 1999 to 2000 to 11.0% in 2013 to 2014, coinciding with the 2001 National Cholesterol Education Program Adult Treatment Panel (ATP)-III guidelines that endorsed low-density lipoprotein (LDL)-cholesterol blood value goals. Read More

Med Sci Monit 2018 Nov 16;24:8232-8238. Epub 2018 Nov 16.

Physical Examination Center of The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, Inner Mongolia, China (mainland).

BACKGROUND The distribution of fat mass and obesity-associated gene (FTO) genes rs9939609 and rs1421085 in obese and normal ethnic Mongolians was analyzed to investigate the association of FTO gene polymorphisms with obesity and metabolic syndrome in ethnic Mongolians. MATERIAL AND METHODS The genotypes of FTO genes rs9939609 and rs1421085 in 500 subjects were detected by allele-specific PCR (AS-PCR). General characteristics and clinical biochemical indicators were compared between the obesity group and the control group. Read More

Am J Physiol Endocrinol Metab 2019 Feb 13;316(2):E221-E229. Epub 2018 Nov 13.

National Institute for Health and Welfare , Helsinki , Finland.

Higher physical activity is associated with a reduced hazard for a plethora of diseases. It has remained unknown how the two primary physical activity-associated health effects, improved physical performance and change in body composition, independently modulate metabolic profiles toward a reduced risk for adverse outcomes. Here, we utilized a prospective cohort of 664 young men undergoing military service. Read More

Eur J Hum Genet 2019 Mar 12;27(3):422-431. Epub 2018 Nov 12.

Department of Internal Medicine, Division of Endocrinology, Leiden University Medical Center, Leiden, The Netherlands.

According to the current dogma, cholesteryl ester transfer protein (CETP) decreases high-density lipoprotein (HDL)-cholesterol (C) and increases low-density lipoprotein (LDL)-C. However, detailed insight into the effects of CETP on lipoprotein subclasses is lacking. Therefore, we used a Mendelian randomization approach based on a genetic score for serum CETP concentration (rs247616, rs12720922 and rs1968905) to estimate causal effects per unit (µg/mL) increase in CETP on 159 standardized metabolic biomarkers, primarily lipoprotein subclasses. Read More

Psychiatry Res Neuroimaging 2018 Dec 29;282:55-63. Epub 2018 Oct 29.

Department of Psychiatric Research, Diakonhjemmet Hospital, Vinderen, 0373 Oslo, Norway; NORMENT, KG Jebsen Centre for Psychosis Research, Division of Mental Health and Addiction, Oslo University Hospital, and Institute of Clinical Medicine, University of Oslo, Oslo, Norway; Department of Clinical Neuroscience, Centre for Psychiatric Research, Karolinska Institutet, Stockholm, Sweden. Electronic address:

Altered cortical brain morphology is observed in psychotic disorders. Despite the importance of lipid homeostasis for healthy brain functioning, knowledge about its role in cortical alterations in psychosis is limited. In a sample of patients with psychotic disorders, we investigated the relationship between treatment with olanzapine (OLZ), and cortical thickness and gray/white matter intensity contrast, and the association between these measures and serum lipid levels. Read More

Acta Neuropathol 2019 Feb 9;137(2):209-226. Epub 2018 Nov 9.

Neuroradiology Section, L-352, Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, San Francisco, CA, 94143, USA.

Cardiovascular (CV)- and lifestyle-associated risk factors (RFs) are increasingly recognized as important for Alzheimer's disease (AD) pathogenesis. Beyond the ε4 allele of apolipoprotein E (APOE), comparatively little is known about whether CV-associated genes also increase risk for AD. Using large genome-wide association studies and validated tools to quantify genetic overlap, we systematically identified single nucleotide polymorphisms (SNPs) jointly associated with AD and one or more CV-associated RFs, namely body mass index (BMI), type 2 diabetes (T2D), coronary artery disease (CAD), waist hip ratio (WHR), total cholesterol (TC), triglycerides (TG), low-density (LDL) and high-density lipoprotein (HDL). Read More

Int J Mol Sci 2018 Nov 8;19(11). Epub 2018 Nov 8.

Institute of Translational Medicine, Medical College, Yangzhou University, Yangzhou 225001, China.

Rabbits (Oryctolagus cuniculus) are one of the most widely used animal models for the study of human lipid metabolism and atherosclerosis because they are more sensitive to a cholesterol diet than other experimental animals such as rodents. Currently, two hypercholesterolemic rabbit models are frequently used for atherosclerosis studies. One is a cholesterol-fed wild-type rabbit and the other is the Watanabe heritable hyperlipidemic (WHHL) rabbit, which is genetically deficient in low density lipoprotein (LDL) receptor function. Read More

J Alzheimers Dis 2018 ;66(3):1275-1282

NHLBI's Framingham Heart Study, Framingham, MA, USA.

Epidemiological and genetic studies have pointed to the role of cholesterol in Alzheimer's disease (AD). We explored the interaction of a genetic risk score (GRS) of AD risk alleles with mid-life plasma lipid levels (LDL-C, HDL-C, and triglycerides) on risk for AD in the Framingham Heart Study (FHS). Mid-life (between the ages of 40-60 years old) lipid levels were obtained from individuals in the FHS Original and Offspring cohorts (157 cases and 2,882 controls) with genetic data and AD status available. Read More