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Cardiovascular genetics

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https://www.readbyqxmd.com/read/28230855/simvastatin-induced-cell-cycle-arrest-through-inhibition-of-stat3-skp2-axis-and-activation-of-ampk-to-promote-p27-and-p21-accumulation-in-hepatocellular-carcinoma-cells
#1
Sin-Ting Wang, Hsiu J Ho, Jaw-Town Lin, Jeng-Jer Shieh, Chun-Ying Wu
Hepatocellular carcinoma (HCC) is characterized by a poor prognosis and is one of the leading causes of cancer-related death worldwide. Simvastatin, an HMG-CoA reductase inhibitor, which decreases cholesterol synthesis by inhibiting mevalonate pathways and is widely used to treat cardiovascular diseases. Simvastatin exhibits anticancer effects against several malignancies. However, the molecular mechanisms underlying the anticancer effects of simvastatin on HCC are still not well understood. In this study, we demonstrated simvastatin-induced G0/G1 arrest by inducing p21 and p27 accumulation in HepG2 and Hep3B cells...
February 23, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28229824/normal-arterial-stiffness-in-familial-mediterranean-fever-evidence-for-a-possible-cardiovascular-protective-role-of-colchicine
#2
Olga Kukuy, Avi Livneh, Liran Mendel, Ariel Benor, Eitan Giat, Oleg Perski, Olga Feld, Yonatan Kassel, Ilan Ben-Zvi, Merav Lidar, Eliezer J Holtzman, Adi Leiba
OBJECTIVES: Familial Mediterranean fever (FMF) is an autoinflammatory disorder with episodic and persistent inflammation, which is only partially suppressed by continuous colchicine treatment. While chronic inflammation is considered an important cardiovascular risk factor in many inflammatory disorders, its impact in FMF is still disputed. We measured arterial stiffness, a marker of atherosclerotic cardiovascular disease, in a group of FMF patients, in order to evaluate the cardiovascular consequences of inflammation in FMF and the role of colchicine in their development...
February 9, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28229285/topics-on-vitamin-d-in-systemic-lupus-erythematosus-analysis-of-evidence-and-critical-literature-review
#3
António Marinho, Mariana Taveira, Carlos Vasconcelos
Systemic lupus erythematosus (SLE) is a systemic autoimmune disease with multiorgan inflammation, linked to the loss of immune tolerance to self-antigens and the production of a diversity of autoantibodies. The phenotype and progression of SLE have been linked to a combination of environmental, genetic, and hormonal factors. One such environmental factor is vitamin D, a vital hormone with well-established effects on mineral metabolism, skeletal health, and effects on cardiovascular system. The purpose of this article is to make the analysis of evidence and literature review of the pleomorphic effects of Vitamin D in SLE...
February 22, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28226599/identifying-glaucoma-patients-by-applying-multivariate-analyses-of-cardiovascular-signals
#4
Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Andreas Voss, Claudia Fischer, Cristina Gonzalez Martinez, Eva Koch, Niklas Plange, Kathleen Kunert, Claudia Fischer, Kathleen Kunert, Niklas Plange, Cristina Gonzalez Martinez, Eva Koch, Andreas Voss
Glaucoma is a disease that damages the eye's optic nerve. However, the exact cause of this optic nerve damage is not yet fully understood. Besides the factors of age, genetics and others, such as obesity, medication and migraines, a vascular dysfunction is believed to be a significant factor leading to glaucoma. This study's objective was to investigate whether these vascular dysfunctions could be recognized by analyzing cardiovascular regulation in glaucoma patients. Linear and nonlinear methods were applied to the extracted heart rate (HR), and systolic/ diastolic blood pressure (DBP) time series to discriminate between 35 healthy controls and 20 glaucoma patients...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28226326/psoriasis-and-obesity
#5
Peter Jensen, Lone Skov
Psoriasis is a common chronic inflammatory skin disease with a complex pathogenesis consisting of a genetic component, immune dysfunction, and environmental factors. It is associated with numerous comorbidities including psoriatic arthritis, cardiovascular disease, metabolic syndrome, and obesity. Evidence suggests that obesity is a risk factor for incident psoriasis, aggravates existing psoriasis, and that weight reduction may improve the severity of psoriasis in overweight individuals. Excess body weight may interfere with the medical treatment used in psoriasis and adds to the cardiovascular risk profile in these patients, which underscores the importance of effective weight control regimens...
February 23, 2017: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/28225781/chronic-pain-depression-and-cardiovascular-disease-linked-through-a-shared-genetic-predisposition-analysis-of-a-family-based-cohort-and-twin-study
#6
Oliver van Hecke, Lynne J Hocking, Nicola Torrance, Archie Campbell, Sandosh Padmanabhan, David J Porteous, Andrew M McIntosh, Andrea V Burri, Haruka Tanaka, Frances M K Williams, Blair H Smith
BACKGROUND: Depression and chronic pain are the two most important causes of disability (Global Burden of Disease Study 2013). They occur together more frequently than expected and both conditions have been shown to be co-morbid with cardiovascular disease. Although shared socio-demographic risk factors (e.g. gender, deprivation) might explain the co-morbidity of these three conditions, we hypothesised that these three long-term, highly prevalent conditions co-occur and may be due to shared familial risk, and/or genetic factors...
2017: PloS One
https://www.readbyqxmd.com/read/28223397/what-people-with-down-syndrome-can-teach-us-about-cardiopulmonary-disease
#7
REVIEW
Kelley L Colvin, Michael E Yeager
Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension)...
January 2017: European Respiratory Review: An Official Journal of the European Respiratory Society
https://www.readbyqxmd.com/read/28219980/activation-of-neuronal-endothelin-b-receptors-mediates-pressor-response-through-alpha-1-adrenergic-receptors
#8
Bryan K Becker, Joshua S Speed, Mackenzie Powell, David M Pollock
Abnormalities in activity of the endothelin (ET) system have been widely reported in a number of cardiovascular disease states such as hypertension and heart failure. Although the vascular responses to ET are well established, the interaction between ET and other important modulators of blood pressure, such as the sympathetic nervous system, are less understood. Previous reports implicate ET signaling through ET type B (ETB) receptors in increasing neuronal activity. Therefore, we hypothesized that activation of ETB receptors on sympathetic nerves would increase blood pressure through an adrenergic-mediated mechanism...
February 2017: Physiological Reports
https://www.readbyqxmd.com/read/28215937/long-term-treatment-with-evolocumab-added-to-conventional-drug-therapy-with-or-without-apheresis-in-patients-with-homozygous-familial-hypercholesterolaemia-an-interim-subset-analysis-of-the-open-label-taussig-study
#9
Frederick J Raal, G Kees Hovingh, Dirk Blom, Raul D Santos, Mariko Harada-Shiba, Eric Bruckert, Patrick Couture, Handrean Soran, Gerald F Watts, Christopher Kurtz, Narimon Honarpour, Lihua Tang, Sree Kasichayanula, Scott M Wasserman, Evan A Stein
BACKGROUND: Homozygous familial hypercholesterolaemia is a genetic disorder characterised by substantially raised LDL cholesterol, reduced LDL receptor function, xanthomas, and cardiovascular disease before age 20 years. Conventional therapy is with statins, ezetimibe, and apheresis. We aimed to assess the long-term safety and efficacy of the proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor evolocumab in a subset of patients with homozygous familial hypercholesterolaemia enrolled in an open-label, non-randomised phase 3 trial...
February 16, 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28215923/association-between-the-presence-carotid-artery-plaque-and-cardiovascular-events-in-patients-with-genetic-hypercholesterolemia
#10
Ana M Bea, Fernando Civeira, Estíbaliz Jarauta, Itziar Lamiquiz-Moneo, Sofía Pérez-Calahorra, Victoria Marco-Benedí, Ana Cenarro, Rocío Mateo-Gallego
INTRODUCTION AND OBJECTIVES: The equations used in the general population to calculate cardiovascular risk are not useful in genetic hypercholesterolemia (GH). Carotid plaque detection has proved useful in cardiovascular prediction and risk reclassification but there have been no studies of its usefulness in GH. The aim of this study was to determine the association between the presence of carotid artery plaque and the occurrence of cardiovascular events in patients with GH. METHODS: This study included 1778 persons with GH...
February 16, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28215516/aisf-position-paper-on-nonalcoholic-fatty-liver-disease-nafld-updates-and-future-directions
#11
Amedeo Lonardo, Fabio Nascimbeni, Giovanni Targher, Mauro Bernardi, Ferruccio Bonino, Elisabetta Bugianesi, Alessandro Casini, Amalia Gastaldelli, Giulio Marchesini, Fabio Marra, Luca Miele, Filomena Morisco, Salvatore Petta, Fabio Piscaglia, Gianluca Svegliati-Baroni, Luca Valenti, Stefano Bellentani
This review summarizes our current understanding of nonalcoholic fatty liver disease (NAFLD), a multi-factorial systemic disease resulting from a complex interaction between a specific genetic background and multiple environmental/metabolic "hits". The role of gut microbiota, lipotoxicity, inflammation and their molecular pathways is reviewed in-depth. We also discuss the epidemiology and natural history of NAFLD by pinpointing the remarkably high prevalence of NAFLD worldwide and its inherent systemic complications: hepatic (steatohepatitis, advanced fibrosis and cirrhosis), cardio-metabolic (cardiovascular disease, cardiomyopathy, arrhythmias and type 2 diabetes) and neoplastic (primary liver cancers and extra-hepatic cancers)...
January 23, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28214534/demographic-phenotypic-and-genetic-characteristics-of-centenarians-in-okinawa-and-honshu-japan-part-2-honshu-japan
#12
REVIEW
Yasumichi Arai, Takashi Sasaki, Nobuyoshi Hirose
The scope and purpose of this review was to summarize the aims, methods, findings, and future of centenarian and (semi)-supercentenarian studies in Japan, particularly those from our own interdisciplinary laboratory. Medically, approximately 97% of centenarians contract chronic diseases including hypertension and gastrointestinal disease; however, they present with few cardiovascular risk factors. The low prevalence of diabetes mellitus and carotid atherosclerotic plaques are peculiarities of centenarians, which could be associated with high adiponectin levels...
February 15, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28211588/is-this-back-pain-killing-me-all-cause-and-cardiovascular-specific-mortality-in-older-danish-twins-with-spinal-pain
#13
M Fernandez, E Boyle, J Hartvigsen, M L Ferreira, K M Refshauge, C G Maher, K Christensen, J L Hopper, P H Ferreira
BACKGROUND: Few studies have examined the potentially reduced life expectancy associated with spinal pain (i.e. low back and neck pain) in an ageing population, particularly after controlling for familial factors, including genetics. METHODS: We investigated whether spinal pain increased the rate of all-cause and disease-specific cardiovascular mortality in older Danish twins aged ≥70 years. Data from 4391 participants collected at baseline were linked with the Danish Cause of Death Registry with the study ending on 31 December 2014...
February 17, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28209224/systematic-evaluation-of-pleiotropy-identifies-6-further-loci-associated-with%C3%A2-coronary-artery%C3%A2-disease
#14
Thomas R Webb, Jeanette Erdmann, Kathleen E Stirrups, Nathan O Stitziel, Nicholas G D Masca, Henning Jansen, Stavroula Kanoni, Christopher P Nelson, Paola G Ferrario, Inke R König, John D Eicher, Andrew D Johnson, Stephen E Hamby, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric E Schadt, Johan L M Björkegren, Peter E Weeke, Paul L Auer, Ursula M Schick, Yingchang Lu, He Zhang, Marie-Pierre Dube, Anuj Goel, Martin Farrall, Gina M Peloso, Hong-Hee Won, Ron Do, Erik van Iperen, Jochen Kruppa, Anubha Mahajan, Robert A Scott, Christina Willenborg, Peter S Braund, Julian C van Capelleveen, Alex S F Doney, Louise A Donnelly, Rosanna Asselta, Pier A Merlini, Stefano Duga, Nicola Marziliano, Josh C Denny, Christian Shaffer, Nour Eddine El-Mokhtari, Andre Franke, Stefanie Heilmann, Christian Hengstenberg, Per Hoffmann, Oddgeir L Holmen, Kristian Hveem, Jan-Håkan Jansson, Karl-Heinz Jöckel, Thorsten Kessler, Jennifer Kriebel, Karl L Laugwitz, Eirini Marouli, Nicola Martinelli, Mark I McCarthy, Natalie R Van Zuydam, Christa Meisinger, Tõnu Esko, Evelin Mihailov, Stefan A Escher, Maris Alver, Susanne Moebus, Andrew D Morris, Jarma Virtamo, Majid Nikpay, Oliviero Olivieri, Sylvie Provost, Alaa AlQarawi, Neil R Robertson, Karen O Akinsansya, Dermot F Reilly, Thomas F Vogt, Wu Yin, Folkert W Asselbergs, Charles Kooperberg, Rebecca D Jackson, Eli Stahl, Martina Müller-Nurasyid, Konstantin Strauch, Tibor V Varga, Melanie Waldenberger, Lingyao Zeng, Rajiv Chowdhury, Veikko Salomaa, Ian Ford, J Wouter Jukema, Philippe Amouyel, Jukka Kontto, Børge G Nordestgaard, Jean Ferrières, Danish Saleheen, Naveed Sattar, Praveen Surendran, Aline Wagner, Robin Young, Joanna M M Howson, Adam S Butterworth, John Danesh, Diego Ardissino, Erwin P Bottinger, Raimund Erbel, Paul W Franks, Domenico Girelli, Alistair S Hall, G Kees Hovingh, Adnan Kastrati, Wolfgang Lieb, Thomas Meitinger, William E Kraus, Svati H Shah, Ruth McPherson, Marju Orho-Melander, Olle Melander, Andres Metspalu, Colin N A Palmer, Annette Peters, Daniel J Rader, Muredach P Reilly, Ruth J F Loos, Alex P Reiner, Dan M Roden, Jean-Claude Tardif, John R Thompson, Nicholas J Wareham, Hugh Watkins, Cristen J Willer, Nilesh J Samani, Heribert Schunkert, Panos Deloukas, Sekar Kathiresan
BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES: This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysis of the extent of pleiotropy of all CAD loci. METHODS: In discovery analyses involving 42,335 CAD cases and 78,240 control subjects we tested the association of 29,383 common (minor allele frequency >5%) single nucleotide polymorphisms available on the exome array, which included a substantial proportion of known or suspected single nucleotide polymorphisms associated with common diseases or traits as of 2011...
February 21, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28207573/genome-wide-analysis-of-clopidogrel-active-metabolite-levels-identifies-novel-variants-that-influence-antiplatelet-response
#15
Joshua D Backman, Jeffrey R O'Connell, Keith Tanner, Cody J Peer, William D Figg, Shawn D Spencer, Braxton D Mitchell, Alan R Shuldiner, Laura M Yerges-Armstrong, Richard B Horenstein, Joshua P Lewis
Clopidogrel is one of the most commonly used therapeutics for the secondary prevention of cardiovascular events in patients with acute coronary syndromes. However, considerable interindividual variation in clopidogrel response has been documented, resulting in suboptimal therapy and an increased risk of recurrent events for some patients. In this investigation, we carried out the first genome-wide association study of circulating clopidogrel active metabolite levels in 513 healthy participants to directly measure clopidogrel pharmacokinetics...
February 15, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28205331/new-insights-to-the-mechanisms-underlying-atherosclerosis-in-rheumatoid-arthritis
#16
REVIEW
Mahdi Mahmoudi, Saeed Aslani, Reza Fadaei, Ahmad Reza Jamshidi
Rheumatoid arthritis (RA) is an inflammatory circumstance, which has been associated with increased risk of cardiovascular disease (CVD). Although RA management has been promoted, mortality rate due to CVD remains remarkable. Approximately, 50% of premature death cases in RA are attributable to CVD. RA patients develop atherosclerosis in a greater amount than the general population. Moreover, atherosclerotic lesions develop rapidly in RA patients and might be more susceptible to rupture. The inflammatory condition of RA, such as cytokines, abnormally activated immune cells, play a role in the initiation, perpetuation and exacerbation of atherosclerosis...
February 16, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28202900/cardiovascular-disease-prevention-lifestyle-attenuation-of-genetic-risk
#17
Benoit J Arsenault, Jean-Pierre Després
No abstract text is available yet for this article.
February 16, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28202385/long-term-consequences-of-disrupting-adenosine-signaling-during-embryonic-development
#18
REVIEW
Scott A Rivkees, Christopher C Wendler
There is growing evidence that disruption in the prenatal environment can have long-lasting effects on an individual's health in adulthood. Research on the fetal programming of adult diseases, including cardiovascular disease, focuses on epi-mutations, which alter the normal pattern of epigenetic factors such as DNA methylation, miRNA expression, or chromatin modification, rather than traditional genetic alteration. Thus, understanding how in utero chemical exposures alter epigenetics and lead to adult disease is of considerable public health concern...
February 12, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/28196072/genetic-prediction-of-male-pattern-baldness
#19
Saskia P Hagenaars, W David Hill, Sarah E Harris, Stuart J Ritchie, Gail Davies, David C Liewald, Catharine R Gale, David J Porteous, Ian J Deary, Riccardo E Marioni
Male pattern baldness can have substantial psychosocial effects, and it has been phenotypically linked to adverse health outcomes such as prostate cancer and cardiovascular disease. We explored the genetic architecture of the trait using data from over 52,000 male participants of UK Biobank, aged 40-69 years. We identified over 250 independent genetic loci associated with severe hair loss (P<5x10-8). By splitting the cohort into a discovery sample of 40,000 and target sample of 12,000, we developed a prediction algorithm based entirely on common genetic variants that discriminated (AUC = 0...
February 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28195141/a-mendelian-randomization-study-of-the-effect-of-calcium-on-coronary-artery-disease-myocardial-infarction-and-their-risk-factors
#20
Lin Xu, Shi Lin Lin, C Mary Schooling
Meta-analyses of randomized controlled trials (RCTs) suggest calcium could have adverse effects on cardiovascular disease, although these findings are controversial. To clarify, we assessed whether people with genetically higher calcium had a higher risk of coronary artery disease (CAD), myocardial infarction (MI) and their risk factors. We used a two-sample Mendelian randomization study. We identified genetic variants (single nucleotide polymorphisms (SNPs)) that independently contributed to serum calcium at genome-wide significance which we applied to large extensively genotyped studies of CAD, MI, diabetes, lipids, glycaemic traits and adiposity to obtain unconfounded estimates, with body mass index (BMI) as a control outcome...
February 14, 2017: Scientific Reports
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