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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#1
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 14, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29343271/p66shc-gene-expression-in-peripheral-blood-mononuclear-cells-and-progression-of-diabetic-complications
#2
Gian Paolo Fadini, Mattia Albiero, Benedetta Maria Bonora, Nicol Poncina, Saula Vigili de Kreutzenberg, Angelo Avogaro
BACKGROUND: The risk of diabetic complications is modified by genetic and epigenetic factors. p66Shc drives the hyperglycaemic cell damage and its deletion prevents experimental diabetic complications. We herein tested whether p66Shc expression in peripheral blood mononuclear cells (PBMCs) predicts adverse outcomes in people with diabetes. METHODS: In a cohort of 100 patients with diabetes (16 type 1 and 84 type 2), we quantified baseline p66Shc expression in PBMCs by quantitative PCR...
January 17, 2018: Cardiovascular Diabetology
https://www.readbyqxmd.com/read/29316855/the-role-of-noninvasive-cardiovascular-testing-applied-clinical-nutrition-and-nutritional-supplements-in-the-prevention-and-treatment-of-coronary-heart-disease
#3
Mark Houston
Numerous clinical trials suggest that we have reached a limit in our ability to decrease the incidence of coronary heart disease (CHD) and cardiovascular disease (CVD) utilizing the traditional diagnostic evaluation, prevention and treatment strategies for the top five cardiovascular risk factors of hypertension, diabetes mellitus, dyslipidemia, obesity and smoking. About 80% of heart disease (heart attacks, angina, coronary heart disease and congestive heart failure) can be prevented by optimal nutrition, optimal exercise, optimal weight and body composition, mild alcohol intake and avoiding smoking...
January 1, 2018: Therapeutic Advances in Cardiovascular Disease
https://www.readbyqxmd.com/read/29315324/a-novel-biomarker-for-prediction-of-atrial-fibrillation-susceptibility-in-patients-with-celiac-disease
#4
Selcuk Kucukseymen, Ayhan Hilmi Cekin, Nermin Bayar, Sakir Arslan, Elif Uygur Kucukseymen, Tanju Mercan, Semir Ozdemir
BACKGROUND: Celiac disease (CD), a serious autoimmune disorder that occurs in people who are genetically predisposed, is induced by dietary gluten intake and affects primarily the small intestine. Many studies have identified an increased risk of cardiovascular problems in patients with CD. Moreover, these patients are susceptible to certain liver diseases, as well as fibrosis. OBJECTIVE: The aim of this study was to assess the presence of fibrosis using the De Ritis ratio, determining its effect on the electromechanical features of the left atrium and its susceptibility to atrial fibrillation (AF) in patients with CD...
2018: PloS One
https://www.readbyqxmd.com/read/29299748/association-of-col4a1-rs605143-rs565470-and-cd14-rs2569190-genes-polymorphism-with-coronary-artery-disease
#5
Syed Tasleem Raza, Shania Abbas, Ale Eba, Fazal Karim, Irshad Ahmad Wani, Saliha Rizvi, Alina Zaidi, Farzana Mahdi
Coronary artery disease (CAD) is the leading cause of death worldwide and it is basically caused by atherosclerosis. The atherosclerotic process includes complex events and each one involves a specific biological pathway and different genes. According to World Health Organization report, Cardiovascular diseases will be the largest cause of death and disability by 2020, with an estimated 2.6 million Indians predicted to die due to CAD predominantly with myocardial infarction. Genetic factors are estimated to contribute 30-60% of the CAD risk...
January 3, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29297191/angiographic-advancement-of-the-coronary-disease-and-the-cardiovascular-risk-at-the-acute-coronary-syndrome-in-patients-with-the-metabolic-syndrome
#6
Katarzyna Widecka-Ostrowska, Krzysztof Safranow, Maciej Lewandowski, Krzysztof Przybycień, Jarosław Gorący, Zdzisława Kornacewicz-Jach
BACKGROUND: Extent of angiographic lesions, size of infarct and in-hospital and distant prognosis in patients with the metabolic syndrome have been not clearly determined. Detailed knowledge of markers both for ACS occurrence as well as those affecting early and further prognosis will have key significance at taking correct preventive and therapeutic decisions. AIM: Comparing in patients with first ACS treated with coronary angioplasty the advancement of coronary disease and the cardiovascular risk evaluated using GRACE 2...
January 3, 2018: Kardiologia Polska
https://www.readbyqxmd.com/read/29237686/toward-genetics-driven-early-intervention-in-dilated-cardiomyopathy-design-and-implementation-of-the-dcm-precision-medicine-study
#7
REVIEW
Daniel D Kinnamon, Ana Morales, Deborah J Bowen, Wylie Burke, Ray E Hershberger
BACKGROUND: The cause of idiopathic dilated cardiomyopathy (DCM) is unknown by definition, but its familial subtype is considered to have a genetic component. We hypothesize that most idiopathic DCM, whether familial or nonfamilial, has a genetic basis, in which case a genetics-driven approach to identifying at-risk family members for clinical screening and early intervention could reduce morbidity and mortality. METHODS: On the basis of this hypothesis, we have launched the National Heart, Lung, and Blood Institute- and National Human Genome Research Institute-funded DCM Precision Medicine Study, which aims to enroll 1300 individuals (600 non-Hispanic African ancestry, 600 non-Hispanic European ancestry, and 100 Hispanic) who meet rigorous clinical criteria for idiopathic DCM along with 2600 of their relatives...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29233637/compound-heterozygous-familial-hypercholesterolemia-in-a-chinese-boy-with-a-de%C3%A2-novo-and-transmitted-low-density-lipoprotein-receptor-mutation
#8
Yizhe Ma, Yingyun Gong, Abhimanyu Garg, Hongwen Zhou
BACKGROUND: Homozygous familial hypercholesterolemia is characterized by extremely elevated serum low-density lipoprotein cholesterol (LDL-C) levels and increased risk of cardiovascular complications due to biallelic mutations in LDL receptor (LDLR). OBJECTIVE: We present a 10-year-old Chinese homozygous familial hypercholesterolemia boy with biallelic LDLR mutations including an extremely rare de novo mutation. METHODS: Detailed family history and clinical and biochemical data were gathered from the pedigree...
October 26, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29226640/association-of-paraoxonase-1-polymorphism-and-serum-25-hydroxyvitamin-d-with-the-risk-of-cardiovascular-disease-in-patients-with-rheumatoid-arthritis
#9
Sawsan O Khoja, Yasser El Miedany, Archana P Iyer, Sami M Bahlas, Khadijah S Balamash, Mohamed F Elshal
BACKGROUND: Patients with rheumatoid arthritis (RA) have significantly increased cardiovascular (CV) morbidity and mortality that are not accounted for by traditional risk factors alone. Paraoxonase 1 (PON1) and 25-hydroxyvitamin D have been shown to be involved in the pathogenesis of CV diseases. Objective: This study aimed to investigate PON1 gene polymorphism and serum 25-hydroxyvitamin D concentrations in RA patients, and to determine their association with CV risk in RA. METHODS: Serum samples from 46 RA patients and 45 healthy controls were tested for PON1 R192Q genotypes and serum vitamin D concentrations...
November 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/29221444/genome-wide-association-study-of-coronary-artery-calcified-atherosclerotic-plaque-in-african-americans-with-type-2-diabetes
#10
Jasmin Divers, Nicholette D Palmer, Carl D Langefeld, W Mark Brown, Lingyi Lu, Pamela J Hicks, S Carrie Smith, Jianzhao Xu, James G Terry, Thomas C Register, Lynne E Wagenknecht, John S Parks, Lijun Ma, Gary C Chan, Sarah G Buxbaum, Adolfo Correa, Solomon Musani, James G Wilson, Herman A Taylor, Donald W Bowden, John Jeffrey Carr, Barry I Freedman
BACKGROUND: Coronary artery calcified atherosclerotic plaque (CAC) predicts cardiovascular disease (CVD). Despite exposure to more severe conventional CVD risk factors, African Americans (AAs) are less likely to develop CAC, and when they do, have markedly lower levels than European Americans. Genetic factors likely contribute to the observed ethnic differences. To identify genes associated with CAC in AAs with type 2 diabetes (T2D), a genome-wide association study (GWAS) was performed using the Illumina 5 M chip in 691 African American-Diabetes Heart Study participants (AA-DHS), with replication in 205 Jackson Heart Study (JHS) participants with T2D...
December 8, 2017: BMC Genetics
https://www.readbyqxmd.com/read/29198934/novel-polymorphisms-associated-with-hyperalphalipoproteinemia-and-apparent-cardioprotection
#11
Connor P Oates, Darya Koenig, Jeffrey Rhyne, Nikolay Bogush, Jeffrey O'Connell, Braxton D Mitchell, Michael Miller
BACKGROUND: Hyperalphalipoproteinemia (HALP) is inversely correlated with coronary heart disease (CHD) although genetic variants associated with high serum levels of high-density lipoprotein cholesterol (HDL-C) have not been shown to be cardioprotective. OBJECTIVE: The objective of the study was to uncover novel genetic variants associated with HALP and possibly with reduced risk of CHD. METHODS: Exome sequencing data, HDL-C, and triglyceride levels were analyzed in 1645 subjects...
November 21, 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29183908/modulation-of-glp-1-levels-by-a-genetic-variant-that-regulates-the-cardiovascular-effects-of-intensive-glycemic-control-in-accord
#12
Hetal S Shah, Mario Luca Morieri, Santica M Marcovina, Ronald J Sigal, Hertzel C Gerstein, Michael J Wagner, Alison A Motsinger-Reif, John B Buse, Peter Kraft, Josyf C Mychaleckyj, Alessandro Doria
OBJECTIVE: A genome-wide association study in the Action to Control Cardiovascular Risk in Diabetes (ACCORD) trial identified two markers (rs57922 and rs9299870) that were significantly associated with cardiovascular mortality during intensive glycemic control and could potentially be used, when combined into a genetic risk score (GRS), to identify patients with diabetes likely to derive benefit from intensive control rather than harm. The aim of this study was to gain insights into the pathways involved in the modulatory effect of these variants...
November 28, 2017: Diabetes Care
https://www.readbyqxmd.com/read/29182730/genetic-variation-in-slc8a1-gene-involved-in-blood-pressure-responses-to-acute-salt-loading
#13
Kuo Liu, Zheng Liu, Han Qi, Bin Liu, Jingjing Wu, Yezhou Liu, Jie Zhang, Han Cao, Yuxiang Yan, Yan He, Ling Zhang
BACKGROUND: Salt sensitivity of blood pressure (SSBP) increases the risk of cardiovascular complications, and the heritability of SSBP is about 50% in Chinese population. However, studies identifying genes involved in BP responses to acute sodium loading and diuresis shrinkage are still limited. METHOD: A total of 342 essential hypertensives from Beijing were recruited in our study. A modified Sullivan's acute oral saline load and diuresis shrinkage test was conducted to each individual...
November 22, 2017: American Journal of Hypertension
https://www.readbyqxmd.com/read/29173193/polygenic-prediction-of-the-phenome-across-ancestry-in-emerging-adulthood
#14
Anna R Docherty, Arden Moscati, Danielle Dick, Jeanne E Savage, Jessica E Salvatore, Megan Cooke, Fazil Aliev, Ashlee A Moore, Alexis C Edwards, Brien P Riley, Daniel E Adkins, Roseann Peterson, Bradley T Webb, Silviu A Bacanu, Kenneth S Kendler
BACKGROUND: Identifying genetic relationships between complex traits in emerging adulthood can provide useful etiological insights into risk for psychopathology. College-age individuals are under-represented in genomic analyses thus far, and the majority of work has focused on the clinical disorder or cognitive abilities rather than normal-range behavioral outcomes. METHODS: This study examined a sample of emerging adults 18-22 years of age (N = 5947) to construct an atlas of polygenic risk for 33 traits predicting relevant phenotypic outcomes...
November 27, 2017: Psychological Medicine
https://www.readbyqxmd.com/read/29171645/cardiovascular-risk-factors-and-white-matter-hyperintensities-in-patients-with-migraine-without-aura
#15
Ceyla Ataç Uçar, Hafize Nalan Güneş, Cemile Sencer Demircan, Burcu Gökçe Çokal, Selda Keskin Güler, Tahir Kurtuluş Yoldaş
OBJECTIVES: White matter hyperintensities (WMHs) are observed in patients with migraine with aura (MWA) and without aura (MWO), but there are a limited number of studies regarding patients with MWA. In this study, we aimed to investigate the cardiovascular risk factors which may play a role in the development of WMHs in patients with MWO. METHODS: This observational, analytical, case-control study was conducted between June 2016 and January 2017. It included 21 patients with MWO who had WMHs on brain MRI and 19 patients with MWO who tested normal on MRI (control group) at the Neurology Department Outpatient Polyclinic, Ankara Training and Research Hospital...
October 2017: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29167102/coffee-consumption-and-health-umbrella-review-of-meta-analyses-of-multiple-health-outcomes
#16
REVIEW
Robin Poole, Oliver J Kennedy, Paul Roderick, Jonathan A Fallowfield, Peter C Hayes, Julie Parkes
Objectives To evaluate the existing evidence for associations between coffee consumption and multiple health outcomes.Design Umbrella review of the evidence across meta-analyses of observational and interventional studies of coffee consumption and any health outcome.Data sources PubMed, Embase, CINAHL, Cochrane Database of Systematic Reviews, and screening of references.Eligibility criteria for selecting studies Meta-analyses of both observational and interventional studies that examined the associations between coffee consumption and any health outcome in any adult population in all countries and all settings...
November 22, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/29108839/association-between-a-mir499a-polymorphism-and-diabetic-neuropathy-in-type-2-diabetes
#17
Cinzia Ciccacci, Andrea Latini, Carla Greco, Cristina Politi, Cinzia D'Amato, Davide Lauro, Giuseppe Novelli, Paola Borgiani, Vincenza Spallone
AIMS: Diabetic polyneuropathy (DPN) and cardiovascular autonomic neuropathy (CAN) affect a large percentage of diabetic people and impact severely on quality of life. As it seems that miRNAs and their variations might play a role in these complications, we investigated whether the rs3746444 SNP in the MIR499A gene could be associated with susceptibility to DPN and/or CAN. METHODS: We analyzed 150 participants with type 2 diabetes. DNA was extracted from peripheral blood samples and genotyping was performed by TaqMan genotyping assay...
October 26, 2017: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/29101168/genetically-increased-angiotensin-i-converting-enzyme-alters-peripheral-and-renal-vascular-reactivity-to-angiotensin-ii-and-bradykinin-in-mice
#18
Catherine Chollet, Sandrine Placier, Christos Chatziantoniou, Annette Hus-Citharel, Nathalie Caron, Ronan Roussel, Francois Alhenc-Gelas, Nadine Bouby
Angiotensin 1-converting enzyme (ACE) levels in man are under strong genetic influence. Genetic variation in ACE has been linked to risk for, and progression of, cardiovascular and renal diseases. Causality has been documented in genetically modified mice but mechanisms underlying causality are not completely elucidated. To further document the vascular and renal consequences of a moderate genetic increase in ACE synthesis, we studied genetically modified mice carrying three copies of the ACE gene (3-copy mice) and littermate wild type animals (2-copy mice)...
November 3, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/29100553/translatability-score-revisited-differentiation-for-distinct-disease-areas
#19
REVIEW
Alexandra Wendler, Martin Wehling
BACKGROUND: Translational science supports successful transition of early biomedical research into human applications. In 2009 a translatability score to assess risk and identify strengths and weaknesses of a given project has been designed and successfully tested in case studies. The score elements, in particular the contributing weight factors, are heterogeneous for different disease areas; therefore, the score was individualized for six areas (cardiovascular, oncology, psychiatric, anti-viral, anti-bacterial/fungal and monogenetic diseases)...
November 3, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/29096865/cascade-screening-for-familial-hypercholesterolemia-practical-consequences
#20
Leonora Louter, Joep Defesche, Jeanine Roeters van Lennep
Familial Hypercholesterolemia (FH) is an autosomal dominant disorder mainly caused by mutations in the LDLR gene, resulting in elevated serum cholesterol levels and elevated risk of premature cardiovascular disease (CVD). Timely treatment with lipid lowering medication can lower the risk of CVD to the same level of the normal population. Currently the incidence of FH is estimated at 1 in 240 persons in the Caucasian population. A diagnosis of FH can be made on the basis of clinical criteria (including LDL cholesterol and family history) or DNA testing...
November 2017: Atherosclerosis. Supplements
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