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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/30403821/admixture-mapping-identifies-novel-loci-for-obstructive-sleep-apnea-in-hispanic-latino-americans
#1
Heming Wang, Brian E Cade, Tamar Sofer, Scott A Sands, Han Chen, Sharon Browning, Adrienne M Stilp, Tin L Louie, Timothy A Thornton, W Craig Johnson, Jennifer E Below, Matthew P Conomos, Daniel S Evans, Sina A Gharib, Xiuqing Guo, Alexis C Frazier-Wood, Hao Mei, Kristine Yaffe, Jose S Loredo, Alberto R Ramos, Elizabeth Barrett-Connor, Sonia Ancoli-Israel, Phyllis C Zee, Raanan Arens, Neomi A Shah, Kent D Taylor, Gregory J Tranah, Katie L Stone, Craig L Hanis, James G Wilson, Daniel J Gottlieb, Sanjay R Patel, Ken Rice, Wendy S Post, Jerome I Rotter, Shamil R Sunyaev, Jianwen Cai, Xihong Lin, Shaun M Purcell, Cathy C Laurie, Richa Saxena, Susan Redline, Xiaofeng Zhu
Obstructive sleep apnea (OSA) is a common disorder associated with increased risk of cardiovascular disease and mortality. Its prevalence and severity vary across ancestral background. Although OSA traits are heritable, few genetic associations have been identified. To identify genetic regions associated with OSA and improve statistical power, we applied admixture mapping on three primary OSA traits (the apnea hypopnea index [AHI], overnight average oxyhemoglobin saturation [SaO2] and percentage time SaO2<90%) and a secondary trait (respiratory event duration) in a Hispanic/Latino American population study of 11,575 individuals with significant variation in ancestral background...
November 7, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/30401628/effects-of-zamicastat-treatment-in-a-genetic-model-of-salt-sensitive-hypertension-and-heart-failure
#2
Bruno Igreja, Nuno M Pires, Lyndon C Wright, Patrício Soares-da-Silva
Hyperactivity of sympathetic nervous system plays an important role in the development and progression of cardiovascular diseases. An approach to mitigate the enhanced sympathetic nervous system drive is restricting the biosynthesis of noradrenaline via inhibition of the enzyme dopamine β-hydroxylase (DβH), that catalyzes the hydroxylation of dopamine to noradrenaline in sympathetic nerves. The aim of the present study was to evaluate the effects of zamicastat, a novel DβH inhibitor that decreases noradrenaline and increases dopamine levels in peripheral sympathetically innervated tissues, on the hemodynamic and cardiometabolic parameters in salt-induced hypertension and heart failure in the Dahl salt-sensitive (SS) rat...
October 26, 2018: European Journal of Pharmacology
https://www.readbyqxmd.com/read/30400379/patient-and-provider-perspectives-on-a-decision-aid-for-familial-hypercholesterolemia
#3
Medhat Farwati, Ashok Kumbamu, David C Kochan, Iftikhar J Kullo
Familial Hypercholesterolemia (FH) is an inherited disorder associated with increased cardiovascular risk that requires patients to make multiple impactful decisions regarding the management of their condition. Patient decision aids (PDAs) can facilitate shared decision-making (SDM) and enable patients to make choices that are concordant with their goals and values. To inform the development of a PDA for patients with FH, we employed a qualitative inductive approach and focus group discussions with patients, physicians, and genetic counselors...
November 4, 2018: Journal of Personalized Medicine
https://www.readbyqxmd.com/read/30382898/multiple-genotype-phenotype-association-study-reveals-intronic-variant-pair-on-sidt2-associated-with-metabolic-syndrome-in-a-korean-population
#4
Sanghoon Moon, Young Lee, Sungho Won, Juyoung Lee
BACKGROUND: Metabolic syndrome is a risk factor for type 2 diabetes and cardiovascular disease. We identified common genetic variants that alter the risk for metabolic syndrome in the Korean population. To isolate these variants, we conducted a multiple-genotype and multiple-phenotype genome-wide association analysis using the family-based quasi-likelihood score (MFQLS) test. For this analysis, we used 7211 and 2838 genotyped study subjects for discovery and replication, respectively...
November 1, 2018: Human Genomics
https://www.readbyqxmd.com/read/30380775/association-between-genetic-variant-of-apolipoprotein-c3-and-incident-hypertension-stratified-by-obesity-and-physical-activity-in-korea
#5
Garam Jo, So-Young Kwak, Ji Young Kim, Hyunjung Lim, Min-Jeong Shin
Apolipoprotein C3 (APOC3) is an important regulator of lipoprotein metabolism, and has been shown to be strongly associated with hypertriglyceridemia. We tested whether triglyceride-influencing genetic variants at APOC3 (T-455C, C-482T, C1100T, and SstI) are associated with the onset of hypertension (HTN) among Korean adults stratified by lifestyle-related factors in the Ansung⁻Ansan cohort within the Korean Genome and Epidemiology Study. After excluding participants with preexisting cancer, cardiovascular diseases, diabetes, and HTN, a total of 5239 men and women were included at baseline (2001⁻2002), and followed up for a median of 9...
October 30, 2018: Nutrients
https://www.readbyqxmd.com/read/30367059/genome-wide-analyses-identify-a-role-for-slc17a4-and-aadat-in-thyroid-hormone-regulation
#6
Alexander Teumer, Layal Chaker, Stefan Groeneweg, Yong Li, Celia Di Munno, Caterina Barbieri, Ulla T Schultheiss, Michela Traglia, Tarunveer S Ahluwalia, Masato Akiyama, Emil Vincent R Appel, Dan E Arking, Alice Arnold, Arne Astrup, Marian Beekman, John P Beilby, Sofie Bekaert, Eric Boerwinkle, Suzanne J Brown, Marc De Buyzere, Purdey J Campbell, Graziano Ceresini, Charlotte Cerqueira, Francesco Cucca, Ian J Deary, Joris Deelen, Kai-Uwe Eckardt, Arif B Ekici, Johan G Eriksson, Luigi Ferrrucci, Tom Fiers, Edoardo Fiorillo, Ian Ford, Caroline S Fox, Christian Fuchsberger, Tessel E Galesloot, Christian Gieger, Martin Gögele, Alessandro De Grandi, Niels Grarup, Karin Halina Greiser, Kadri Haljas, Torben Hansen, Sarah E Harris, Diana van Heemst, Martin den Heijer, Andrew A Hicks, Wouter den Hollander, Georg Homuth, Jennie Hui, M Arfan Ikram, Till Ittermann, Richard A Jensen, Jiaojiao Jing, J Wouter Jukema, Eero Kajantie, Yoichiro Kamatani, Elisa Kasbohm, Jean-Marc Kaufman, Lambertus A Kiemeney, Margreet Kloppenburg, Florian Kronenberg, Michiaki Kubo, Jari Lahti, Bruno Lapauw, Shuo Li, David C M Liewald, Ee Mun Lim, Allan Linneberg, Michela Marina, Deborah Mascalzoni, Koichi Matsuda, Daniel Medenwald, Christa Meisinger, Ingrid Meulenbelt, Tim De Meyer, Henriette E Meyer Zu Schwabedissen, Rafael Mikolajczyk, Matthijs Moed, Romana T Netea-Maier, Ilja M Nolte, Yukinori Okada, Mauro Pala, Cristian Pattaro, Oluf Pedersen, Astrid Petersmann, Eleonora Porcu, Iris Postmus, Peter P Pramstaller, Bruce M Psaty, Yolande F M Ramos, Rajesh Rawal, Paul Redmond, J Brent Richards, Ernst R Rietzschel, Fernando Rivadeneira, Greet Roef, Jerome I Rotter, Cinzia F Sala, David Schlessinger, Elizabeth Selvin, P Eline Slagboom, Nicole Soranzo, Thorkild I A Sørensen, Timothy D Spector, John M Starr, David J Stott, Youri Taes, Daniel Taliun, Toshiko Tanaka, Betina Thuesen, Daniel Tiller, Daniela Toniolo, Andre G Uitterlinden, W Edward Visser, John P Walsh, Scott G Wilson, Bruce H R Wolffenbuttel, Qiong Yang, Hou-Feng Zheng, Anne Cappola, Robin P Peeters, Silvia Naitza, Henry Völzke, Serena Sanna, Anna Köttgen, Theo J Visser, Marco Medici
Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits...
October 26, 2018: Nature Communications
https://www.readbyqxmd.com/read/30354329/genetic-susceptibility-loci-for-cardiovascular-disease-and-their-impact-on-atherosclerotic-plaques
#7
Sander W van der Laan, Marten A Siemelink, Saskia Haitjema, Hassan Foroughi Asl, Ljubica Perisic, Michal Mokry, Jessica van Setten, Rainer Malik, Martin Dichgans, Bradford B Worrall, Nilesh J Samani, Heribert Schunkert, Jeanette Erdmann, Ulf Hedin, Gabrielle Paulsson-Berne, Johan L M Björkegrenn, Gert J de Borst, Folkert W Asselbergs, Folkert W den Ruijter, Paul I W de Bakker, Gerard Pasterkamp
BACKGROUND: Atherosclerosis is a chronic inflammatory disease in part caused by lipid uptake in the vascular wall, but the exact underlying mechanisms leading to acute myocardial infarction and stroke remain poorly understood. Large consortia identified genetic susceptibility loci that associate with large artery ischemic stroke and coronary artery disease. However, deciphering their underlying mechanisms are challenging. Histological studies identified destabilizing characteristics in human atherosclerotic plaques that associate with clinical outcome...
September 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/30354296/interactions-between-regulatory-variants-in-cyp7a1-cholesterol-7%C3%AE-hydroxylase-promoter-and-enhancer-regions-regulate-cyp7a1-expression
#8
Danxin Wang, Katherine Hartmann, Michal Seweryn, Wolfgang Sadee
BACKGROUND: CYP7A1 (cholesterol 7α-hydroxylase) catalyzes the rate-limiting step in bile acid biosynthesis from cholesterol-a main pathway for cholesterol removal from the body. CYP7A1 single-nucleotide polymorphisms (SNPs) are associated with total cholesterol and LDL (low-density lipoprotein) levels, risk of cardiovascular diseases, and other phenotypes; however, results are inconsistent, and causative variants remain uncertain, except for a frequent promoter SNP (rs3808607). METHODS: We used chromatin conformation capture (4C assay), chromatin immunoprecipitation qPCR assay in hepatocytes, and CRISPR (clustered regularly interspaced short palindromic repeats)-mediated genome editing in hepatocellular carcinoma cell line cells to identify regulatory regions for CYP7A1...
October 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/30354202/associations-of-circulating-protein-levels-with-lipid-fractions-in-the-general-population
#9
Sylwia M Figarska, Stefan Gustafsson, Johan Sundström, Johan Ärnlöv, Anders Mälarstig, Sölve Elmståhl, Tove Fall, Lars Lind, Erik Ingelsson
Objective- Revealing patterns of associations between circulating protein and lipid levels could improve biological understanding of cardiovascular disease (CVD). In this study, we investigated the associations between proteins related to CVD and triglyceride (TG), total cholesterol, LDL (low-density lipoprotein), and HDL (high-density lipoprotein) cholesterol levels in individuals from the general population. Approach and Results- We measured plasma protein levels using the Olink ProSeek CVD I or II+III arrays and analyzed 57 proteins available in 3 population-based cohorts: EpiHealth (n=2029; 52% women; median age, 61 years), PIVUS (Prospective Study of the Vasculature in Uppsala Seniors; n=790; 51% women; all aged 70 years), and ULSAM (Uppsala Longitudinal Study of Adult Men; n=551; all men aged 77 years)...
October 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/30326071/retinal-and-cerebral-microvasculopathy-relationships-and-their-genetic-contributions
#10
Jacoba A van de Kreeke, H Ton Nguyen, Elles Konijnenberg, Jori Tomassen, Anouk den Braber, Mara Ten Kate, Carole H Sudre, Frederik Barkhof, Dorret I Boomsma, H Stevie Tan, Frank D Verbraak, Pieter Jelle Visser
Purpose: Retinal microvasculopathy may reflect small vessel disease in the brain. Here we test the relationships between retinal vascular parameters and small vessel disease, the influence of cardiovascular risk factors on these relationships, and their common genetic background in a monozygotic twin cohort. Methods: We selected 134 cognitively healthy individuals (67 monozygotic twin pairs) aged ≥60 years from the Netherlands Twin Register for the EMIF-AD PreclinAD study...
October 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/30322388/association-of-lipc-250g-a-and-514c-t-polymorphisms-and-hypertension-a-systematic-review-and-meta-analysis
#11
Xingsheng Zhao, Yu Ren, Hui Li, Yun Wu
BACKGROUND: Hypertension is the most common chronic disease, and most important risk factor for cardiovascular disease. This meta-analysis aimed to explore the association between hepatic lipase gene (LIPC) gene -250G/A (rs2070895) and -514C/T (rs1800588) polymorphisms and the susceptibility to hypertension. METHODS: Published studies were searched using the PubMed, Embase and Cochrane Library databases. Newcastle-Ottawa Scale (NOS) was used to assess the quality of the included studies...
October 15, 2018: Lipids in Health and Disease
https://www.readbyqxmd.com/read/30310464/familial-hypercholesterolaemia-diagnosis-and-management
#12
REVIEW
Rodrigo Alonso, Leopoldo Perez de Isla, Ovidio Muñiz-Grijalvo, Jose Luis Diaz-Diaz, Pedro Mata
Familial hypercholesterolaemia is the most common monogenic disorder associated with premature coronary artery disease. Mutations are most frequently found in the LDL receptor gene. Clinical criteria can be used to make the diagnosis; however, genetic testing will confirm the disorder and is very useful for cascade screening. Early identification and adequate treatment can improve prognosis, reducing negative clinical cardiovascular outcomes. Patients with familial hypercholesterolaemia are considered at high cardiovascular risk and the treatment target is LDL cholesterol <2...
August 2018: European Cardiology
https://www.readbyqxmd.com/read/30307272/behavioral-impact-of-return-of-genetic-test-results-for-complex-disease-systematic-review-and-meta-analysis
#13
Maia J Frieser, Sylia Wilson, Scott Vrieze
OBJECTIVE: Advances in genomewide association studies have made possible the return of genetic risk results for complex diseases. Two concerns about these results are (a) negative psychological consequences and (b) viewing probabilistic results as deterministic, leading to misinterpretation and inappropriate decisions. The present study evaluates these concerns through a meta-analytic review of existing literature. METHOD: Seventeen genetic testing studies of complex disease, including 1,171 participants and reporting 195 effects, 104 of which were unadjusted for covariates, were meta-analyzed under a random effects model...
October 11, 2018: Health Psychology: Official Journal of the Division of Health Psychology, American Psychological Association
https://www.readbyqxmd.com/read/30293769/baseline-and-on-statin-treatment-lipoprotein-a-levels-for-prediction-of-cardiovascular-events-individual-patient-data-meta-analysis-of-statin-outcome-trials
#14
Peter Willeit, Paul M Ridker, Paul J Nestel, John Simes, Andrew M Tonkin, Terje R Pedersen, Gregory G Schwartz, Anders G Olsson, Helen M Colhoun, Florian Kronenberg, Christiane Drechsler, Christoph Wanner, Samia Mora, Anastasia Lesogor, Sotirios Tsimikas
BACKGROUND: Elevated lipoprotein(a) is a genetic risk factor for cardiovascular disease in general population studies. However, its contribution to risk for cardiovascular events in patients with established cardiovascular disease or on statin therapy is uncertain. METHODS: Patient-level data from seven randomised, placebo-controlled, statin outcomes trials were collated and harmonised to calculate hazard ratios (HRs) for cardiovascular events, defined as fatal or non-fatal coronary heart disease, stroke, or revascularisation procedures...
October 13, 2018: Lancet
https://www.readbyqxmd.com/read/30281655/timp3-and-timp1-are-risk-genes-for-bicuspid-aortic-valve-and-aortopathy-in-turner-syndrome
#15
Holly Corbitt, Shaine A Morris, Claus H Gravholt, Kristian H Mortensen, Rebecca Tippner-Hedges, Michael Silberbach, Cheryl L Maslen
Turner syndrome is caused by complete or partial loss of the second sex chromosome, occurring in ~1 in 2,000 female births. There is a greatly increased incidence of aortopathy of unknown etiology, including bicuspid aortic valve (BAV), thoracic aortic aneurysms, aortic dissection and rupture. We performed whole exome sequencing on 188 Turner syndrome participants from the National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Related Conditions (GenTAC). A gene-based burden test, the optimal sequence kernel association test (SKAT-O), was used to evaluate the data with BAV and aortic dimension z-scores as covariates...
October 2018: PLoS Genetics
https://www.readbyqxmd.com/read/30280614/economic-evaluation-of-a-pharmacogenomic-multi-gene-panel-test-to-optimize-anti-hypertension-therapy-simulation-study
#16
Eli F Kelley, Eric M Snyder, Nimer S Alkhatib, Scott C Snyder, Ryan Sprissler, Thomas P Olson, Monica K Akre, Ivo Abraham
AIMS: Hypertension is the strongest modifiable risk factor for cardiovascular disease, affecting 80 million individuals in the US and responsible for ∼360,000 deaths, at total annual costs of $93.5 billion. Antihypertension therapies guided by single genotypes are clinically more effective and may avert more adverse events than the standard of care of layering anti-hypertensive drug therapies, thus potentially decreasing costs. This study aimed to determine the economic benefits of the implementation of multi-gene panel guided therapies for hypertension from the payer perspective within a 3-year time horizon...
October 22, 2018: Journal of Medical Economics
https://www.readbyqxmd.com/read/30272645/a-familial-hypercholesterolemia-human-liver-chimeric-mouse-model-using-induced-pluripotent-stem-cell-derived-hepatocytes
#17
Jiayin Yang, Lai-Yung Wong, Xiao-Yu Tian, Rui Wei, Wing-Hon Lai, Ka-Wing Au, Zhiwei Luo, Carl Ward, Wai-In Ho, David P Ibañez, Hao Liu, Xichen Bao, Baoming Qin, Yu Huang, Miguel A Esteban, Hung-Fat Tse
Familial hypercholesterolemia (FH) is mostly caused by low-density lipoprotein receptor (LDLR) mutations and results in an increased risk of early-onset cardiovascular disease due to marked elevation of LDL cholesterol (LDL-C) in blood. Statins are the first line of lipid-lowering drugs for treating FH and other types of hypercholesterolemia, but new approaches are emerging, in particular PCSK9 antibodies, which are now being tested in clinical trials. To explore novel therapeutic approaches for FH, either new drugs or new formulations, we need appropriate in vivo models...
September 15, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/30270086/health-related-quality-of-life-in-individuals-at-high-risk-for-familial-hypercholesterolemia-undergoing-genetic-cascade-screening-in-brazil
#18
Ana Cristina Souto, Marcio H Miname, Julia Fukushima, Cinthia E Jannes, Jose E Krieger, Martin Hagger, Alexandre C Pereira, Raul D Santos
BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is a genetic disorder associated with high risk of early major cardiovascular events (MACE) that can impact the health related quality of life (HRQoL), however, this association is unclear. This study evaluated HRQoL in index cases (IC) and first-degree relatives (FDR) of individuals at high risk of FH undergoing genetic cascade screening. METHODS: Data collection was performed before awareness of molecular diagnosis results...
October 2018: Atherosclerosis
https://www.readbyqxmd.com/read/30270061/epidemiology-of-familial-hypercholesterolaemia-community-and-clinical
#19
REVIEW
Antonio J Vallejo-Vaz, Kausik K Ray
Familial hypercholesterolaemia (FH) is a genetic disorder affecting the metabolism of low-density lipoprotein (LDL) particles, leading to high LDL-cholesterol levels maintained over time and higher risk of cardiovascular disease (CVD) early in life. Contemporary studies have challenged prior estimations of FH prevalence and suggest this condition to be more frequent than previously considered, with an overall prevalence rate of 1:200-300 individuals in the general population (1:160,000-300,000 for homozygous FH)...
October 2018: Atherosclerosis
https://www.readbyqxmd.com/read/30262460/genetic-tools-for-coronary-risk-assessment-in-type-2-diabetes-a-cohort-study-from-the-accord-clinical-trial
#20
Mario Luca Morieri, He Gao, Marie Pigeyre, Hetal S Shah, Jennifer Sjaarda, Christine Mendonca, Timothy Hastings, Patinut Buranasupkajorn, Alison A Motsinger-Reif, Daniel M Rotroff, Ronald J Sigal, Santica M Marcovina, Peter Kraft, John B Buse, Michael J Wagner, Hertzel C Gerstein, Josyf C Mychaleckyj, Guillaume Parè, Alessandro Doria
OBJECTIVE: We evaluated whether the increasing number of genetic loci for coronary artery disease (CAD) identified in the general population could be used to predict the risk of major CAD events (MCE) among participants with type 2 diabetes at high cardiovascular risk. RESEARCH DESIGN AND METHODS: A weighted genetic risk score (GRS) derived from 204 variants representative of all the 160 CAD loci identified in the general population as of December 2017 was calculated in 5,360 and 1,931 white participants in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) and Outcome Reduction With Initial Glargine Intervention (ORIGIN) studies, respectively...
November 2018: Diabetes Care
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