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Cardiovascular genetics

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https://www.readbyqxmd.com/read/28445597/taller-height-as-a-risk-factor-for-venous-thromboembolism-a-mendelian-randomization-meta-analysis
#1
N S Roetker, S M Armasu, J S Pankow, P L Lutsey, W Tang, M A Rosenberg, T M Palmer, R F MacLehose, S R Heckbert, M Cushman, M de Andrade, A R Folsom
BACKGROUND: Taller height is associated with greater risk of venous thromboembolism (VTE). OBJECTIVES: We used instrumental variable (IV) techniques (Mendelian randomization) to further explore this relationship METHODS: Participants of European ancestry were included from two cohort studies [Atherosclerosis Risk in Communities (ARIC) study and Cardiovascular Health Study (CHS)] and one case-control study [Mayo Clinic VTE Study (Mayo)]. We created two weighted genetic risk scores (GRS) for height; the full GRS included 668 single nucleotide polymorphisms (SNPs) from a previously published meta-analysis and the restricted GRS included a subset of 362 SNPs not associated with weight independently of height...
April 26, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28444290/low-density-lipoproteins-cause-atherosclerotic-cardiovascular-disease-1-evidence-from-genetic-epidemiologic-and-clinical-studies-a-consensus-statement-from-the-european-atherosclerosis-society-consensus-panel
#2
Brian A Ference, Henry N Ginsberg, Ian Graham, Kausik K Ray, Chris J Packard, Eric Bruckert, Robert A Hegele, Ronald M Krauss, Frederick J Raal, Heribert Schunkert, Gerald F Watts, Jan Borén, Sergio Fazio, Jay D Horton, Luis Masana, Stephen J Nicholls, Børge G Nordestgaard, Bart van de Sluis, Marja-Riitta Taskinen, Lale Tokgözoglu, Ulf Landmesser, Ulrich Laufs, Olov Wiklund, Jane K Stock, M John Chapman, Alberico L Catapano
Aims: To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results: We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence from genetic studies, prospective epidemiologic cohort studies, Mendelian randomization studies, and randomized trials of LDL-lowering therapies. In clinical studies, plasma LDL burden is usually estimated by determination of plasma LDL cholesterol level (LDL-C)...
April 24, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28444229/a-novel-but-frequent-variant-in-lpa-kiv-2-is-associated-with-a-pronounced-lp-a-and-cardiovascular-risk-reduction
#3
Stefan Coassin, Gertraud Erhart, Hansi Weissensteiner, Mariana Eca Guimarães de Araújo, Claudia Lamina, Sebastian Schönherr, Lukas Forer, Margot Haun, Jamie Lee Losso, Anna Köttgen, Konrad Schmidt, Gerd Utermann, Annette Peters, Christian Gieger, Konstantin Strauch, Armin Finkenstedt, Reto Bale, Heinz Zoller, Bernhard Paulweber, Kai-Uwe Eckardt, Alexander Hüttenhofer, Lukas A Huber, Florian Kronenberg
Aims: Lp(a) concentrations represent a major cardiovascular risk factor and are almost entirely controlled by one single locus (LPA). However, many genetic factors in LPA governing the enormous variance of Lp(a) levels are still unknown. Since up to 70% of the LPA coding sequence are located in a difficult to access hypervariable copy number variation named KIV-2, we hypothesized that it may contain novel functional variants with pronounced effects on Lp(a) concentrations. We performed a large scale mutation analysis in the KIV-2 using an extreme phenotype approach...
April 25, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28444175/predictive-value-of-telomere-length-on-outcome-following-acute-myocardial-infarction-evidence-for-contrasting-effects-of-vascular-vs-blood-oxidative-stress
#4
Marios Margaritis, Fabio Sanna, George Lazaros, Ioannis Akoumianakis, Sheena Patel, Alexios S Antonopoulos, Chloe Duke, Laura Herdman, Costas Psarros, Evangelos K Oikonomou, Cheerag Shirodaria, Mario Petrou, Rana Sayeed, George Krasopoulos, Regent Lee, Dimitris Tousoulis, Keith M Channon, Charalambos Antoniades
Aims: Experimental evidence suggests that telomere length (TL) is shortened by oxidative DNA damage, reflecting biological aging. We explore the value of blood (BTL) and vascular TL (VTL) as biomarkers of systemic/vascular oxidative stress in humans and test the clinical predictive value of BTL in acute myocardial infarction (AMI). Methods and results: In a prospective cohort of 290 patients surviving recent AMI, BTL measured on admission was a strong predictor of all-cause [hazard ratio (HR) [95% confidence interval (CI)]: 3...
April 24, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28443391/atazanavir-sulfate-cobicistat-for-the-treatment-of-hiv-infection
#5
Francisco Antunes
The life expectancy of patients living with HIV has increased significantly in the last two decades, as a result of the great progress in treatment of HIV infection. During this time, several drugs were developed to offer long-term benefits in terms of virologic efficacy, favourable tolerability and toxicity profiles. Pharmacokinetic boosting of protease inhibitors allows a higher genetic barrier, as few or no drug-resistant mutations are detected in patients with virologic failure. Areas covered: Atazanavir sulfate + cobicistat (ATV/c) was recently approved in the United States of America and in the European Union for the treatment of HIV-1 infection...
April 26, 2017: Expert Review of Anti-infective Therapy
https://www.readbyqxmd.com/read/28443112/transcriptome-guided-mining-of-genes-involved-in-crocin-biosynthesis
#6
Aijia Ji, Jing Jia, Zhichao Xu, Ying Li, Wu Bi, Fengming Ren, Chunnian He, Jie Liu, Kaizhi Hu, Jingyuan Song
Gardenia jasminoides is used in traditional Chinese medicine and has drawn attention as a rich source of crocin, a compound with reported activity against various cancers, depression and cardiovascular disease. However, genetic information on the crocin biosynthetic pathway of G. jasminoides is scarce. In this study, we performed a transcriptome analysis of the leaves, green fruits, and red fruits of G. jasminoides to identify and predict the genes that encode key enzymes responsible for crocin production, compared with Crocus sativus...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28442232/a-genetic-risk-score-predicts-cardiovascular-events-in-patients-with-stable-coronary-artery-disease
#7
Morten Krogh Christiansen, Mette Nyegaard, Sanne Bøjet Larsen, Erik Lerkevang Grove, Morten Würtz, Søs Neergaard-Petersen, Anne-Mette Hvas, Henrik Kjærulf Jensen, Steen Dalby Kristensen
BACKGROUND: Genetic risk scores (GRSs) may predict cardiovascular risk in community-based populations. However, studies investigating the association with recurrent cardiovascular events in patients with established coronary artery disease (CAD) are conflicting. METHODS: We genotyped 879 patients with high-risk stable CAD and created a GRS based on 45 single nucleotide polymorphisms previously reported to be associated with CAD in genome-wide association studies...
April 19, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28441463/rapidsnps-a-new-computational-pipeline-for-rapidly-identifying-key-genetic-variants-reveals-previously-unidentified-snps-that-are-significantly-associated-with-individual-platelet-responses
#8
Bajuna Rashid Salehe, Chris Ian Jones, Giuseppe Di Fatta, Liam James McGuffin
Advances in omics technologies have led to the discovery of genetic markers, or single nucleotide polymorphisms (SNPs), that are associated with particular diseases or complex traits. Although there have been significant improvements in the approaches used to analyse associations of SNPs with disease, further optimised and rapid techniques are needed to keep up with the rate of SNP discovery, which has exacerbated the 'missing heritability' problem. Here, we have devised a novel, integrated, heuristic-based, hybrid analytical computational pipeline, for rapidly detecting novel or key genetic variants that are associated with diseases or complex traits...
2017: PloS One
https://www.readbyqxmd.com/read/28441168/a-review-of-caffeine-use-as-a-risk-or-protective-factor-for-women-s-health-and-pregnancy
#9
Amy Peacock, Richard P Mattick, Raimondo Bruno
PURPOSE OF REVIEW: To provide a narrative synthesis of recently published studies on caffeine use as a risk or protective factor for health outcomes, with a focus on women's health and pregnancy. RECENT FINDINGS: Based on predominantly observational studies, moderate caffeine intake has been shown to be a protective factor for liver cancer, certain bowel conditions, colorectal cancer, skin cancer, and regular menstrual cycle function. However, heavy consumption is a risk factor for osteoporosis, urinary incontinence, and poorer birth and child developmental outcomes...
April 22, 2017: Current Opinion in Psychiatry
https://www.readbyqxmd.com/read/28441155/do-triglyceride-lowering-drugs-decrease-risk-of-cardiovascular-disease
#10
Kevin C Maki, Mary R Dicklin
PURPOSE OF REVIEW: This review summarizes the evidence supporting a relationship between lowering triglycerides (TGs) and TG-rich lipoprotein cholesterol (TGRL-C) levels and reduced atherosclerotic cardiovascular disease (ASCVD) event risk. RECENT FINDINGS: Data from observational investigations, including studies of genetic variants, provide evidence consistent with a causal relationship between elevations in TG and TGRL-C and greater risk for ASCVD. Randomized controlled trial evidence of ASCVD risk reduction with therapies that substantially lower TG and TGRL-C is limited by the fact that no large-scale trial results have been published from a study that enrolled subjects selected specifically on the basis of TG or TGRL-C elevation, although three such trials are underway or in the planning stages...
April 22, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28439972/mitochondrial-biogenesis-and-pgc-1%C3%AE-gene-expression-in-male-broilers-from-ascites-susceptible-and-resistant-lines
#11
N Khodambashi Emami, A Golian, M Danesh Mesgaran, N B Anthony, D D Rhoads
Ascites is a cardiovascular metabolic disease characterized by accumulation of fluid around the heart and in the abdominal cavity that eventually leads to death. This syndrome is the end-point result of a series of metabolic incidents that are generally caused by impaired oxygen availability. Mitochondria are the major sites of oxygen consumption, therefore major contributors to oxidative stress. Genetic, metabolic and dietary factors can influence variations in mitochondrial biogenesis (mitochondrial size, number and mass) that might have an effect on oxygen consumption and reactive oxygen species production...
April 25, 2017: Journal of Animal Physiology and Animal Nutrition
https://www.readbyqxmd.com/read/28439531/genome-and-cd4-t-cell-methylome-wide-association-study-of-circulating-trimethylamine-n-oxide-in-the-genetics-of-lipid-lowering-drugs-and-diet-network-goldn
#12
Stella Aslibekyan, Marguerite R Irvin, Bertha A Hidalgo, Rodney T Perry, Elias J Jeyarajah, Erwin Garcia, Irina Shalaurova, Paul N Hopkins, Michael A Province, Hemant K Tiwari, Jose M Ordovas, Devin M Absher, Donna K Arnett
BACKGROUND: Trimethylamine-N-oxide (TMAO), an atherogenic metabolite species, has emerged as a possible new risk factor for cardiovascular disease. Animal studies have shown that circulating TMAO levels are regulated by genetic and environmental factors. However, large-scale human studies have failed to replicate the observed genetic associations, and epigenetic factors such as DNA methylation have never been examined in relation to TMAO levels. METHODS AND RESULTS: We used data from the family-based Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) to investigate the heritable determinants of plasma TMAO in humans...
June 2017: Journal of Nutrition & Intermediary Metabolism
https://www.readbyqxmd.com/read/28439316/epigenetic-assays-for-chemical-biology-and-drug-discovery
#13
REVIEW
Sheraz Gul
The implication of epigenetic abnormalities in many diseases and the approval of a number of compounds that modulate specific epigenetic targets in a therapeutically relevant manner in cancer specifically confirms that some of these targets are druggable by small molecules. Furthermore, a number of compounds are currently in clinical trials for other diseases including cardiovascular, neurological and metabolic disorders. Despite these advances, the approved treatments for cancer only extend progression-free survival for a relatively short time and being associated with significant side effects...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28439216/pediatric-obesity-and-cardiometabolic-disorders-risk-factors-and-biomarkers
#14
E Levy, A K Saenger, M W Steffes, E Delvin
Obesity remains the most prevailing disorder in childhood males and females worldwide. Its high prevalence markedly predisposes children to insulin resistance, hypertension, hyperlipidemia and liver disorders while enhancing the risk of type 2 diabetes and cardiovascular diseases. In this review, the relationship of obesity with genetic and environmental factors will be described and the underlined causes will briefly be reported. As obesity in children constitutes an increasingly health concern, important potential biomarkers have been discussed for the diagnosis, treatment and follow-up of the wide range of overweight-related complications...
March 2017: EJIFCC
https://www.readbyqxmd.com/read/28438806/emerging-affinity-based-proteomic-technologies-for-large-scale-plasma-profiling-in-cardiovascular-disease
#15
REVIEW
J Gustav Smith, Robert E Gerszten
Plasma biomarkers that reflect molecular states of the cardiovascular system are central for clinical decision making. Routinely used plasma biomarkers include troponins, natriuretic peptides, and lipoprotein particles, yet interrogate only a modest subset of pathways relevant to cardiovascular disease. Systematic profiling of a larger portion of circulating plasma proteins (the plasma proteome) will provide opportunities for unbiased discovery of novel markers to improve diagnostic or predictive accuracy. In addition, proteomic profiling may inform pathophysiological understanding and point to novel therapeutic targets...
April 25, 2017: Circulation
https://www.readbyqxmd.com/read/28437365/a-method-to-account-for-variation-in-congenital-heart-surgery-length-of-stay
#16
Andrew Brennan, Kimberlee Gauvreau, Jean Connor, Melvin Almodovar, James DiNardo, Puja Banka, Meena Nathan, Derek Mathieu, Aditya Kaza, John E Mayer, Lisa Bergersen
OBJECTIVES: We sought to develop a risk-adjustment methodology for length of stay in congenital heart surgery, as none exist. DESIGN: Prospective cohort analysis combined with previously obtained retrospective cohort analysis of a Department of Cardiovascular Surgery clinical database. PATIENTS: Patients discharged from Boston Children's Hospital between October 1, 2006, and May 31, 2014, that underwent a congenital heart surgery procedure(s) linked to one of 103 surgical procedure types...
April 21, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28435278/genetic-factors-in-pathogenesis-of-diabetes-mellitus-after-kidney-transplantation
#17
REVIEW
Maciej Tarnowski, Sylwia Słuczanowska-Głabowska, Andrzej Pawlik, Małgorzata Mazurek-Mochol, Elżbieta Dembowska
Posttransplant diabetes mellitus (PTDM) is one of the major metabolic complications after transplantation of solid organs including the kidney. This type of diabetes mellitus affects allograft survival, cardiovascular complications and overall patient survival. The modifiable risk factors that contribute to PTDM include obesity, some viral infections (eg, hepatitis C virus, cytomegalovirus) and especially immunosuppressive drugs including corticosteroids, tacrolimus, cyclosporine and sirolimus. Currently, predisposing genetic factors have been considered important in PTDM development...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28435225/association-of-genetic-variations-with-pharmacokinetics-and-lipid-lowering-response-to-atorvastatin-in-healthy-korean-subjects
#18
Hye In Woo, Suk Ran Kim, Wooseong Huh, Jae-Wook Ko, Soo-Youn Lee
BACKGROUND: Statins are effective agents in the primary and secondary prevention of cardiovascular disease, but treatment response to statins varies among individuals. We analyzed multiple genetic polymorphisms and assessed pharmacokinetic and lipid-lowering responses after atorvastatin 80 mg treatment in healthy Korean individuals. METHODS: Atorvastatin 80 mg was given to 50 healthy Korean male volunteers. Blood samples were collected to measure plasma atorvastatin and lipid concentrations up to 48 hours after atorvastatin administration...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28433665/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#19
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart Lung Blood Institute (NHLBI) convened a Working Group of experts on June 2-3, 2016 in Bethesda Maryland to develop recommendations for the NHLBI aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MSC devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
April 19, 2017: Journal of Cardiac Failure
https://www.readbyqxmd.com/read/28433569/vitamin-d-binding-protein-rs7041-polymorphism-and-high-residual-platelet-reactivity-in-patients-receiving-dual-antiplatelet-therapy-with-clopidogrel-or-ticagrelor
#20
Monica Verdoia, Veronica Daffara, Patrizia Pergolini, Roberta Rolla, Paolo Marino, Giorgio Bellomo, Alessandro Carriero, Giuseppe De Luca
BACKGROUND: Vitamin D deficiency represents a major health problem in general population, especially for its association with cardiovascular disorders and thrombotic risk, even in patients on dual antiplatelet therapy (DAPT). Vitamin D Binding Protein (VDBP) is the main transporter of vitamin D in the bloodstream and genetic polymorphisms of this protein have been shown to account for a significant variability of vitamin D levels and its systemic effects. Contrasting data have linked the rs7041 T→G substitution with cardiovascular disease...
April 19, 2017: Vascular Pharmacology
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