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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/28819827/interaction-between-selp-genetic-polymorphisms-with-inflammatory-cytokine-interleukin-6-il-6-gene-variants-on-cardiovascular-disease-in-chinese-han-population
#1
Lu Kou, Ning Yang, Bo Dong, Yang Li, Jingyu Yang, Qin Qin
The aim of the study is to investigate the impact of SELP and IL-6 genetic single-nucleotide polymorphisms (SNPs) and its gene-gene interaction on cardiovascular disease (CVD) risk based on Chinese population. A total of 1082 subjects (519 males, 563 females), with a mean age of 53.9 ± 13.1 years, were selected, including 540 CVD patients and 542 normal control participants. Logistic regression model was used to examine the association between six SNPs and CVD risk. Odds ratio (OR) and 95% confident interval (95% CI) were calculated...
August 18, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/28797215/the-cadm2-gene-is-associated-with-processing-speed-performance-evidence-among-elderly-with-type-2-diabetes
#2
Lior Greenbaum, Ramit Ravona-Springer, Abigail Livny, Shahar Shelly, Inbal Sharvit-Ginon, Ithamar Ganmore, Anna Alkelai, Anthony Heymann, Michal Schnaider Beeri
OBJECTIVES: Recent large scale meta-analysis of genome wide association studies (GWAS) from multiple cohorts, demonstrated the association of the single nucleotide polymorphism (SNP) rs17518584, with processing speed (measured by the Digit Symbol Substitution Task (DSST) or the Letter Digit Substitution Test (LDST)), at GWAS significance level. This SNP is located within the cell adhesion molecule 2 (CADM2) gene. We aimed to validate this finding in our sample of 944 cognitively normal Jewish elderly individuals with type 2 diabetes (T2D), a population which is at risk for cognitive decline and dementia...
August 11, 2017: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/28752728/evaluation-of-on-clopidogrel-platelet-reactivity-overtime-syntax-score-genetic-polymorphisms-and-their-relationship-to-one-year-clinical-outcomes-in-stemi-patients-undergoing-pci
#3
Harsha V Erathi, Rajasekhar Durgaprasad, Vanajakshamma Velam, P V Sarma, Madhavi Rodda, C Kapil, Sreedhar N Kanavath
OBJECTIVES: To investigate the variability of On-clopidogrel platelet reactivity overtime, the association between HTPR, gene polymorphism and Syntax Score (SS) for risk prediction of MACE in patients with ST-Elevation Myocardial Infarction (STEMI) undergoing percutaneous coronary intervention (PCI). BACKGROUND: Platelet function testing may be used to optimize antiplatelet therapy in high risk patients, but identification of this subset of patients remains a challenge...
July 27, 2017: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/28746172/a-genetic-variant-in-the-catechol-o-methyl-transferase-comt-gene-is-related-to-age-dependent-differences-in-the-therapeutic-effect-of-calcium-channel-blockers
#4
Jiayue Xu, Adrian E Boström, Mohamed Saeed, Raghvendra K Dubey, Gérard Waeber, Peter Vollenweider, Pedro Marques-Vidal, Jessica Mwinyi, Helgi B Schiöth
Hypertension is the leading risk factor for cardiovascular disease and one of the major health concerns worldwide. Genetic factors impact both the risk for hypertension and the therapeutic effect of antihypertensive drugs. Sex- and age-specific variances in the prevalence of hypertension are partly induced by estrogen. We investigated 6 single nucleotide polymorphisms in genes encoding enzymes involved in estrogen metabolism in relation to sex- and age-specific differences in the systolic and diastolic blood pressure (SBP and DBP) outcome under the treatment of diuretics, calcium-channel blockers (CCBs), angiotensin-converting-enzyme inhibitors, and angiotensin-receptor blockers (ARBs)...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28736719/lipid-profile-in-adult-patients-with-fabry-disease-ten-year-follow-up
#5
Karolina M Stepien, Chris J Hendriksz
BACKGROUND: Fabry disease, an X-linked genetic condition, results from alpha-galactosidase deficiency and increased accumulation of glycosphingolipids in cardiovascular tissues. Clinical manifestation includes vasculature associated complications. Hyperlipidaemia is one of the cardiovascular risk factors however it has never been well defined in Fabry disease. Enzyme Replacement Therapy (ERT) is available but its effect on serum cholesterol is unknown. The aim of this project was to assess the influence of long-term ERT on lipid profile in a large cohort of adult patients with Fabry disease...
December 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#6
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28696268/personalizing-risk-stratification-for-sudden-death-in-dilated-cardiomyopathy-the-past-present-and-future
#7
REVIEW
Brian P Halliday, John G F Cleland, Jeffrey J Goldberger, Sanjay K Prasad
Results from the DANISH Study (Danish Study to Assess the Efficacy of ICDs in Patients With Non-Ischemic Systolic Heat Failure on Mortality) suggest that for many patients with dilated cardiomyopathy (DCM), implantable cardioverter-defibrillators do not increase longevity. Accurate identification of patients who are more likely to die of an arrhythmia and less likely to die of other causes is required to ensure improvement in outcomes and wise use of resources. Until now, left ventricular ejection fraction has been used as a key criterion for selecting patients with DCM for an implantable cardioverter-defibrillator for primary prevention purposes...
July 11, 2017: Circulation
https://www.readbyqxmd.com/read/28687336/polymorphisms-of-cyp2c8-cyp2c9-and-cyp2c19-and-risk-of-coronary-heart-disease-in-russian-population
#8
Alexey Polonikov, Alexander Kharchenko, Marina Bykanova, Svetlana Sirotina, Irina Ponomarenko, Anna Bocharova, Kseniya Vagaytseva, Vadim Stepanov, Olga Bushueva, Mikhail Churnosov, Maria Solodilova
Epoxyeicosatrienoic acids (EETs) are important vasoactive products of arachidonic acid metabolism with a wide range of biological actions in the cardiovascular system. The present study investigated whether single nucleotide polymorphisms (SNP) of genes coding cytochrome P450 2C subfamily, enzymes involved in biosynthesis of EETs, are associated with the risk of coronary heart disease (CHD). A total of 1255 unrelated Russian subjects comprising 561 patients with angiographically diagnosed CHD and 694 age- and sex-matched healthy subjects were included in the study...
July 4, 2017: Gene
https://www.readbyqxmd.com/read/28685506/update-on-modern-management-of-pheochromocytoma-and-paraganglioma
#9
REVIEW
Jacques W M Lenders, Graeme Eisenhofer
Despite all technical progress in modern diagnostic methods and treatment modalities of pheochromocytoma/paraganglioma, early consideration of the presence of these tumors remains the pivotal link towards the best possible outcome for patients. A timely diagnosis and proper treatment can prevent the wide variety of potentially catastrophic cardiovascular complications. Modern biochemical testing should include tests that offer the best available diagnostic performance, measurements of metanephrines and 3-methoxytyramine in plasma or urine...
June 2017: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28685248/genetic-risk-factors-for-myocardial-infarction-more-clearly-manifest-for-early-age-of-first-onset
#10
Boris V Titov, German J Osmak, Natalia A Matveeva, Nino G Kukava, Roman M Shakhnovich, Alexander V Favorov, Mikhail Ya Ruda, Olga O Favorova
Epidemiological genetics established that heritability in determining the risk of myocardial infarction (MI) is substantially greater when MI occurs early in life. However, the genetic architecture of early-onset and late-onset MI was not compared. We analyzed genotype frequencies of SNPs in/near 20 genes whose protein products are involved in the pathogenesis of atherosclerosis in two groups of Russian patients with MI: the first group included patients with age of first MI onset <60 years (N = 230) and the second group with onset ≥60 years (N = 174)...
July 6, 2017: Molecular Biology Reports
https://www.readbyqxmd.com/read/28661903/p2y12-receptor-inhibitor-resistance-and-coronary-artery-disease-a-bench-to-bedside-primer-for-cardiovascular-specialists
#11
Derek Y F So, Akshay Bagai, Uyen Tran, Subodh Verma, Shamir R Mehta
PURPOSE OF REVIEW: Platelet P2Y12 receptor inhibitors are routinely prescribed for patients after acute coronary syndromes and percutaneous coronary interventions. Patients may have underresponsiveness (or resistance) to these drugs and in particular to clopidogrel, the most often used type. This review aims to focus on the concept of P2Y12 receptor inhibitor resistance and discuss incidence, mechanisms, novel diagnostic techniques and past and future clinical trials on the topic. RECENT FINDINGS: Patients treated with P2Y12 receptor inhibitors may develop high on-treatment platelet reactivity (HPR), a phenomenon of impaired response toward the drug, which has been associated with ischemic complications...
September 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28652891/non-alcoholic-fatty-liver-disease-an-expanded-review
#12
REVIEW
Mark Benedict, Xuchen Zhang
Non-alcoholic fatty liver disease (NAFLD) encompasses the simple steatosis to more progressive steatosis with associated hepatitis, fibrosis, cirrhosis, and in some cases hepatocellular carcinoma. NAFLD is a growing epidemic, not only in the United States, but worldwide in part due to obesity and insulin resistance leading to liver accumulation of triglycerides and free fatty acids. Numerous risk factors for the development of NAFLD have been espoused with most having some form of metabolic derangement or insulin resistance at the core of its pathophysiology...
June 8, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28652462/protective-low-frequency-variants-for-preeclampsia-in-the-fms-related-tyrosine-kinase-1-gene-in-the-finnish-population
#13
A Inkeri Lokki, Emma Daly, Michael Triebwasser, Mitja I Kurki, Elisha D O Roberson, Paavo Häppölä, Kirsi Auro, Markus Perola, Seppo Heinonen, Eero Kajantie, Juha Kere, Katja Kivinen, Anneli Pouta, Jane E Salmon, Seppo Meri, Mark Daly, John P Atkinson, Hannele Laivuori
Preeclampsia is a common pregnancy-specific vascular disorder characterized by new-onset hypertension and proteinuria during the second half of pregnancy. Predisposition to preeclampsia is in part heritable. It is associated with an increased risk of cardiovascular disease later in life. We have sequenced 124 candidate genes implicated in preeclampsia to pinpoint genetic variants contributing to predisposition to or protection from preeclampsia. First, targeted exomic sequencing was performed in 500 preeclamptic women and 190 controls from the FINNPEC cohort (Finnish Genetics of Preeclampsia Consortium)...
August 2017: Hypertension
https://www.readbyqxmd.com/read/28572160/oxidized-phospholipids-and-risk-of-calcific-aortic-valve-disease-the-copenhagen-general-population-study
#14
Pia R Kamstrup, Ming-Yow Hung, Joseph L Witztum, Sotirios Tsimikas, Børge G Nordestgaard
OBJECTIVE: Lipoprotein(a) is causally associated with calcific aortic valve disease (CAVD). Lipoprotein(a) carries proinflammatory and procalcific oxidized phospholipids (OxPL). We tested whether the CAVD risk is mediated by the content of OxPL on lipoprotein(a). APPROACH AND RESULTS: A case-control study was performed within the Copenhagen General Population Study (n=87 980), including 725 CAVD cases (1977-2013) and 1413 controls free of cardiovascular disease...
August 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28566229/-cardiovascular-risk-and-cardiovascular-events-in-the-general-population-of-the-sanitary-area-of-toledo-ricarto-study
#15
G C Rodríguez-Roca, L Rodríguez-Padial, F J Alonso-Moreno, A Segura-Fragoso, A Villarín-Castro, M L Rodríguez-García, A Menchén-Herreros, G A Rojas-Martelo, J A Fernández-Conde, L M Artigao-Rodenas, J A Carbayo-Herencia, C Escobar-Cervantes, J Hernández-Moreno, J Fernández-Martín
INTRODUCTION: The main aim of this study is to ascertain the prevalence of cardiovascular risk factors (CVRF), target organ damage (TOD), cardiovascular disease (CVD), as well as life habits (physical exercise, alcohol consumption, and Mediterranean diet) in the population of a Health Area in Toledo, Spain, to assess cardiovascular risk (CVR). MATERIAL AND METHODS: Epidemiological and observational study that will analyse a sample from the general population aged 18 years or older, randomly selected from a database of health cards, and stratified by age and gender...
May 26, 2017: Semergen
https://www.readbyqxmd.com/read/28566218/relations-between-lipoprotein-a-concentrations-lpa-genetic-variants-and-the-risk-of-mortality-in-patients-with-established-coronary-heart-disease-a-molecular-and-genetic-association-study
#16
Stephen Zewinger, Marcus E Kleber, Vinicius Tragante, Raymond O McCubrey, Amand F Schmidt, Kenan Direk, Ulrich Laufs, Christian Werner, Wolfgang Koenig, Dietrich Rothenbacher, Ute Mons, Lutz P Breitling, Herrmann Brenner, Richard T Jennings, Ioannis Petrakis, Sarah Triem, Mira Klug, Alexandra Filips, Stefan Blankenberg, Christoph Waldeyer, Christoph Sinning, Renate B Schnabel, Karl J Lackner, Efthymia Vlachopoulou, Ottar Nygård, Gard Frodahl Tveitevåg Svingen, Eva Ringdal Pedersen, Grethe S Tell, Juha Sinisalo, Markku S Nieminen, Reijo Laaksonen, Stella Trompet, Roelof A J Smit, Naveed Sattar, J Wouter Jukema, Heinrich V Groesdonk, Graciela Delgado, Tatjana Stojakovic, Anna P Pilbrow, Vicky A Cameron, A Mark Richards, Robert N Doughty, Yan Gong, Rhonda Cooper-DeHoff, Julie Johnson, Markus Scholz, Frank Beutner, Joachim Thiery, J Gustav Smith, Ragnar O Vilmundarson, Ruth McPherson, Alexandre F R Stewart, Sharon Cresci, Petra A Lenzini, John A Spertus, Oliviero Olivieri, Domenico Girelli, Nicola I Martinelli, Andreas Leiherer, Christoph H Saely, Heinz Drexel, Axel Mündlein, Peter S Braund, Christopher P Nelson, Nilesh J Samani, Daniel Kofink, Imo E Hoefer, Gerard Pasterkamp, Arshed A Quyyumi, Yi-An Ko, Jaana A Hartiala, Hooman Allayee, W H Wilson Tang, Stanley L Hazen, Niclas Eriksson, Claes Held, Emil Hagström, Lars Wallentin, Axel Åkerblom, Agneta Siegbahn, Igor Karp, Christopher Labos, Louise Pilote, James C Engert, James M Brophy, George Thanassoulis, Peter Bogaty, Wojciech Szczeklik, Marcin Kaczor, Marek Sanak, Salim S Virani, Christie M Ballantyne, Vei-Vei Lee, Eric Boerwinkle, Michael V Holmes, Benjamin D Horne, Aroon Hingorani, Folkert W Asselbergs, Riyaz S Patel, Bernhard K Krämer, Hubert Scharnagl, Danilo Fliser, Winfried März, Thimoteus Speer
BACKGROUND: Lipoprotein(a) concentrations in plasma are associated with cardiovascular risk in the general population. Whether lipoprotein(a) concentrations or LPA genetic variants predict long-term mortality in patients with established coronary heart disease remains less clear. METHODS: We obtained data from 3313 patients with established coronary heart disease in the Ludwigshafen Risk and Cardiovascular Health (LURIC) study. We tested associations of tertiles of lipoprotein(a) concentration in plasma and two LPA single-nucleotide polymorphisms ([SNPs] rs10455872 and rs3798220) with all-cause mortality and cardiovascular mortality by Cox regression analysis and with severity of disease by generalised linear modelling, with and without adjustment for age, sex, diabetes diagnosis, systolic blood pressure, BMI, smoking status, estimated glomerular filtration rate, LDL-cholesterol concentration, and use of lipid-lowering therapy...
July 2017: Lancet Diabetes & Endocrinology
https://www.readbyqxmd.com/read/28556832/genetic-susceptibility-to-cardiovascular-disease-and-risk-of-dementia
#17
I K Karlsson, A Ploner, C Song, M Gatz, N L Pedersen, S Hägg
Several studies have shown cardiovascular disease (CVD) to be associated with dementia, but it is not clear whether CVD per se increases the risk of dementia or whether the association is due to shared risk factors. We tested how a genetic risk score (GRS) for coronary artery disease (CAD) affects dementia risk after CVD in 13 231 Swedish twins. We also utilized summarized genome-wide association data to study genetic overlap between CAD and Alzheimer´s disease (AD), and additionally between shared risk factors and each disease...
May 30, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28555288/-congenital-disorders-of-lipoprotein-metabolism
#18
W März, T B Grammer, G Delgado, M E Kleber
Congenital disorders of lipid metabolism are caused by a wide range of variants of the genes for receptors, apolipoproteins, enzymes, transfer factors, and cellular cholesterol transporters. Clinically most relevant are autosomal dominant familial hypercholesterolemia (FH) and familial combined hyperlipoproteinemia (FCHL). FH has a prevalence of 1:250. It is due to mutations of the low density lipoprotein (LDL) receptor, less often to mutations of the apolipoprotein B (APOB), the proprotein convertase subtilisin/kexin type 9 (PCSK9), or the signal transducing adapter family member 1 (STAP1)...
August 2017: Herz
https://www.readbyqxmd.com/read/28538136/genetic-and-pharmacologic-inactivation-of-angptl3-and-cardiovascular-disease
#19
RANDOMIZED CONTROLLED TRIAL
Frederick E Dewey, Viktoria Gusarova, Richard L Dunbar, Colm O'Dushlaine, Claudia Schurmann, Omri Gottesman, Shane McCarthy, Cristopher V Van Hout, Shannon Bruse, Hayes M Dansky, Joseph B Leader, Michael F Murray, Marylyn D Ritchie, H Lester Kirchner, Lukas Habegger, Alex Lopez, John Penn, An Zhao, Weiping Shao, Neil Stahl, Andrew J Murphy, Sara Hamon, Aurelie Bouzelmat, Rick Zhang, Brad Shumel, Robert Pordy, Daniel Gipe, Gary A Herman, Wayne H H Sheu, I-Te Lee, Kae-Woei Liang, Xiuqing Guo, Jerome I Rotter, Yii-Der I Chen, William E Kraus, Svati H Shah, Scott Damrauer, Aeron Small, Daniel J Rader, Anders Berg Wulff, Børge G Nordestgaard, Anne Tybjærg-Hansen, Anita M van den Hoek, Hans M G Princen, David H Ledbetter, David J Carey, John D Overton, Jeffrey G Reid, William J Sasiela, Poulabi Banerjee, Alan R Shuldiner, Ingrid B Borecki, Tanya M Teslovich, George D Yancopoulos, Scott J Mellis, Jesper Gromada, Aris Baras
BACKGROUND: Loss-of-function variants in the angiopoietin-like 3 gene (ANGPTL3) have been associated with decreased plasma levels of triglycerides, low-density lipoprotein (LDL) cholesterol, and high-density lipoprotein (HDL) cholesterol. It is not known whether such variants or therapeutic antagonism of ANGPTL3 are associated with a reduced risk of atherosclerotic cardiovascular disease. METHODS: We sequenced the exons of ANGPTL3 in 58,335 participants in the DiscovEHR human genetics study...
July 20, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28536780/-genetic-testing-in-polygenic-diseases-atrial-fibrillation-arterial-hypertension-and-coronary-artery-disease
#20
T Trenkwalder, T Kessler, H Schunkert
Genetic testing plays an increasing role in cardiovascular medicine. Advances in technology and the development of novel and more affordable (high throughput) methods have led to the identification of genetic risk factors in research and clinical practice. Also, this progress has simplified the screening of patients and individuals at risk. In case of rare monogenic diseases, diagnostics, risk stratification, and, in some cases, treatment decisions have become easier. For common, polygenic cardiovascular diseases, the situation is more complex due to interaction of modifiable external risk factors and nonmodifiable factors like genetic predisposition...
August 2017: Herz
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