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Cardiovascular genetic risk testing

Abhiram S Rao, Daniel Lindholm, Manuel A Rivas, Joshua W Knowles, Stephen B Montgomery, Erik Ingelsson
BACKGROUND: PCSK9 inhibition is a potent new therapy for hypercholesterolemia and cardiovascular disease. Although short-term clinical trial results have not demonstrated major adverse effects, long-term data will not be available for some time. Genetic studies in large biobanks offer a unique opportunity to predict drug effects and provide context for the evaluation of future clinical trial outcomes. METHODS: We tested the association of the PCSK9 missense variant rs11591147 with predefined phenotypes and phenome-wide, in 337 536 individuals of British ancestry in the UK Biobank, with independent discovery and replication...
July 2018: Circulation. Genomic and precision medicine
Anum Saeed, Elena V Feofanova, Bing Yu, Wensheng Sun, Salim S Virani, Vijay Nambi, Josef Coresh, Cameron S Guild, Eric Boerwinkle, Christie M Ballantyne, Ron C Hoogeveen
BACKGROUND: Hypertriglyceridemia is associated with increased remnant-like particle cholesterol (RLP-C) and triglycerides in low-density lipoprotein (LDL-TG). Recent studies have focused on atherogenicity of RLP-C, with few data on LDL-TG. OBJECTIVES: The aim of this study was to examine associations of RLP-C and LDL-TG with incident cardiovascular disease (CVD) events and genetic variants in the ARIC (Atherosclerosis Risk In Communities) study. METHODS: Fasting plasma RLP-C and LDL-TG levels were measured in 9,334 men and women without prevalent CVD...
July 10, 2018: Journal of the American College of Cardiology
Kathryn J Gray, Vesela P Kovacheva, Hooman Mirzakhani, Andrew C Bjonnes, Berta Almoguera, Andrew T DeWan, Elizabeth W Triche, Audrey F Saftlas, Josephine Hoh, Dale L Bodian, Elisabeth Klein, Kathi C Huddleston, Sue Ann Ingles, Charles J Lockwood, Hakon Hakonarson, Thomas F McElrath, Jeffrey C Murray, Melissa L Wilson, Errol R Norwitz, S Ananth Karumanchi, Brian T Bateman, Brendan J Keating, Richa Saxena
The genetic susceptibility to preeclampsia, a pregnancy-specific complication with significant maternal and fetal morbidity, has been poorly characterized. To identify maternal genes associated with preeclampsia risk, we assembled 498 cases and 1864 controls of European ancestry from preeclampsia case-control collections in 5 different US sites (with additional matched population controls), genotyped samples on a cardiovascular gene-centric array composed of variants from ≈2000 genes selected based on prior genetic studies of cardiovascular and metabolic diseases and performed case-control genetic association analysis on 27 429 variants passing quality control...
July 2, 2018: Hypertension
Sofia Pavanello, Laura Angelici, Mirjam Hoxha, Laura Cantone, Manuela Campisi, Amedea Silvia Tirelli, Luisella Vigna, Angela Cecilia Pesatori, Valentina Bollati
Background/objectives: The pathologic relationship linking obesity and lipid dismetabolism with earlier onset of aging-related disorders, including cardiovascular disease (CVD) and type-2 diabetes (T2D), is not fully elucidate. Chronic inflammatory state, in obese individuals, may accelerate cellular aging. However, leukocyte telomere length (LTL), the cellular biological aging indicator, is elusively linked with obesity. Recent studies indicate that sterol 27-hydroxylase (CYP27A1) is an emerging antiatherogenic enzyme, that, by converting extrahepatic cholesterol to 27-hydroxycholesterol, facilitates cholesterol removal via high-density lipoprotein-cholesterol (HDL-C)...
2018: Frontiers in Endocrinology
Karen Forrest Keenan, Robert M Finnie, William G Simpson, Lorna McKee, John Dean, Zosia Miedzybrodzka
Familial hypercholesterolemia (FH) is a serious inherited disorder, which greatly increases individuals' risk of cardiovascular disease (CVD) in adult life. However, medical treatment and lifestyle adjustments can fully restore life expectancy. Whilst European guidance advises that where there is a known family mutation genetic testing is undertaken in early childhood, the majority of the at-risk population remain untested and undiagnosed. To date, only a small number of studies have explored parents' and children's experiences of testing and treatment for FH, and little is known about interactions between health professionals, parents, and children in clinic settings...
June 14, 2018: Journal of Community Genetics
B Stallmeyer, S Dittmann, E Schulze-Bahr
Successfully incorporating genetic testing into clinical practice to prevent sudden cardiac death (SCD) requires (1) appropriate recognition of an inherited cardiovascular condition, (2) identification of appropriate family members at risk and for genetic testing, (3) selection of the appropriate genetic test and information about the expected diagnostic yield, (4) understanding the complexity of result interpretation and distinct handling of incidental findings and (5) providing effective communication and medical advice regarding the genetic and medical results and implications to the patient and his family...
June 25, 2018: Der Internist
Umile Giuseppe Longo, Laura Risi Ambrogioni, Mauro Ciuffreda, Nicola Maffulli, Vincenzo Denaro
Introduction: Sudden cardiac death (SCD) of young athletes during competition or training is a tragic event. The long QT syndrome (LQTS) is an arrythmogenic disorder characterized by prolonged ventricular repolarization leading to torsade de pointes evident at electrocardiogram (ECG). Implantable cardioverter defibrillator is an option to revert ventricular fibrillation to sinus rhythm, although the implantation may result in denial of sports participations to the athlete. The authors reviewed the current literature on LQTS in young athletes, to clarify the role of different screening technologies to prevent SCD...
June 20, 2018: British Medical Bulletin
Y H Yu, L Doucette-Stamm, J Rogus, K Moss, R Y L Zee, B Steffensen, P M Ridker, J E Buring, S Offenbacher, K Kornman, D I Chasman
Periodontal disease (PD) shares common risk factors with cardiovascular disease. Our hypothesis was that having a family history of myocardial infarction (FamHxMI) may be a novel risk factor for PD. Risk assessment based on FamHxMI, conditional on smoking status, was examined given the strong influence of smoking on PD. Exploratory analysis with inflammatory biomarkers and genetic determinants was conducted to understand potential mechanistic links. The Women's Genome Health Study (WGHS) is a prospective cohort of US female health care professionals who provided blood samples at baseline in the Women's Health Study, a 2 × 2 factorial clinical trial investigating vitamin E and aspirin in the prevention of cardiovascular disease and cancer...
June 1, 2018: Journal of Dental Research
Dagmar F Hernandez-Suarez, Mariana R Botton, Stuart A Scott, Matthew I Tomey, Mario J Garcia, Jose Wiley, Pedro A Villablanca, Kyle Melin, Angel Lopez-Candales, Jessicca Y Renta, Jorge Duconge
Introduction: High on-treatment platelet reactivity (HTPR) to clopidogrel imparts an increased risk for ischemic events in adults with coronary artery disease. Platelet reactivity varies with ethnicity and is influenced by both clinical and genetic variables; however, no clopidogrel pharmacogenetic studies with Puerto Rican patients have been reported. Therefore, we sought to identify clinical and genetic determinants of on-treatment platelet reactivity in a cohort of Puerto Rican patients with cardiovascular disease...
2018: Pharmacogenomics and Personalized Medicine
Arafat Nasser, Lisbeth Birk Møller
Background A great proportion of the variation in pain experience and chronicity is caused by heritable factors. Within the last decades several candidate genes have been discovered either increasing or decreasing pain sensitivity or the risk of chronic pain in humans. One of the most studied genes is the GCH1 gene coding for the enzyme GTP cyclohydrolase 1 (GCH1). GCH1 catalyses the initial and rate-limiting step in the biosynthesis of tetrahydrobiopterin (BH4). The main function of BH4 is regulation of monoamine and nitric oxide biosynthesis, all involved in nociceptive signalling...
December 29, 2017: Scandinavian Journal of Pain
Angela Beatrice Scardovi, Renata De Maria
Peripartum cardiomyopathy (PPCM) is a relatively rare cardiac disease that manifests itself in the final stage of pregnancy and in the first months after delivery in women with no previous history of cardiovascular disease. The incidence of PPCM varies widely across geographic areas and seems to be on the rise as a result of increased awareness and socioeconomic changes. PPCM recognizes a still partially undefined multifactorial etiology. Various pathogenetic hypotheses have been proposed, that range from autoimmune mechanisms to myocarditis to the hormonal hypothesis for aberrant, antiangiogenic and cardiotoxic prolactin (PRL) production, apoptosis, prolonged exposure to tocolytic drugs, malnutrition and genetic predisposition...
April 2018: Giornale Italiano di Cardiologia
Xiaoling Zhang, Alissa A Frame, Jonathan S Williams, Richard D Wainford
Salt sensitivity of blood pressure (BP) increases hypertension risk and associated adverse cardiovascular outcomes. At present, there are no validated rapid tests or diagnostic markers to identify salt sensitivity of BP in clinical practice. Based on our prior animal studies that report a role for brain Gαi2 proteins in the salt sensitivity of BP and evidence that GNAI2 (single-nucleotide polymorphism) SNPs associate with hypertension risk, we investigated the hypothesis that GNAI2 SNPs associate with salt sensitivity of BP in humans...
June 15, 2018: Physiological Genomics
Ray E Hershberger, Michael M Givertz, Carolyn Y Ho, Daniel P Judge, Paul F Kantor, Kim L McBride, Ana Morales, Matthew R G Taylor, Matteo Vatta, Stephanie M Ware
PURPOSE: The purpose of this document is to provide updated guidance for the genetic evaluation of cardiomyopathy and for an approach to manage secondary findings from cardiomyopathy genes. The genetic bases of the primary cardiomyopathies (dilated, hypertrophic, arrhythmogenic right ventricular, and restrictive) have been established, and each is medically actionable; in most cases established treatments or interventions are available to improve survival, reduce morbidity, and enhance quality of life...
June 14, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Wisam Jasim Mohammed, Bassam Musa Sadik Al-Musawi, Christian Oberkanins, Helene Pühringer
Objective: The underlying molecular basis of ischemic heart diseases (IHDs) has not yet been studied among Iraqi people. This study determined the frequency and types of some cardiovascular genetic risk factors among Iraqi patients with IHDs. Methods: This is a cross-sectional study recruiting 56 patients with acute IHD during a 2-month period excluding patients >50 years and patients with documented hyperlipidemia. Their ages ranged between 18 and 50 years; males were 54 and females were only 2...
May 2018: International Journal of Health Sciences
Katarzyna Polonis, Michal Hoffmann, Anna Szyndler, Jacek Wolf, Robert Nowak, Christiane Becari, Stephane Laurent, Pierre Boutouyrie, Olle Melander, Krzysztof Narkiewicz
INTRODUCTION: Arterial stiffness is recognized as an intermediate phenotype and predictor of cardiovascular disease. Arterial stiffness is complex in origin with contributions from lifestyle and genetic factors. However, the association between single nucleotide polymorphisms (SNPs) and arterial stiffness remains unclear. OBJECTIVE: The aim is to assess whether a multilocus genetic risk score (GRS), composed of selected SNPs linked to cardiovascular traits and outcomes, is associated with arterial stiffness in patients with hypertension...
June 6, 2018: Journal of Hypertension
Kiran Musunuru, Farah Sheikh, Rajat M Gupta, Steven R Houser, Kevin O Maher, David J Milan, Andre Terzic, Joseph C Wu
Induced pluripotent stem cells (iPSCs) offer an unprece-dented opportunity to study human physiology and disease at the cellular level. They also have the potential to be leveraged in the practice of precision medicine, for example, personalized drug testing. This statement comprehensively describes the provenance of iPSC lines, their use for cardiovascular disease modeling, their use for precision medicine, and strategies through which to promote their wider use for biomedical applications. Human iPSCs exhibit properties that render them uniquely qualified as model systems for studying human diseases: they are of human origin, which means they carry human genomes; they are pluripotent, which means that in principle, they can be differentiated into any of the human body's somatic cell types; and they are stem cells, which means they can be expanded from a single cell into millions or even billions of cell progeny...
January 2018: Circulation. Genomic and precision medicine
Pieter van der Bijl, Victoria Delgado, Marianne Bootsma, Jeroen J Bax
The etiology of dilated cardiomyopathy (DCM) can be grouped as either genetic or nongenetic. More than 50 pathogenic genes have been described, with sarcomeric and lamin A/C mutations being the most common. Mutation carriers for genetic DCM are often asymptomatic until cardiac disease manifests with heart failure, arrhythmias, or sudden cardiac death. Preventive strategies are promising but can only be applied and tested adequately if genetic DCM can be diagnosed at an early stage. Early diagnosis of mutation carriers that may develop overt DCM requires advanced imaging techniques that can detect subtle structural and functional abnormalities...
June 5, 2018: Circulation
Lydia D Hellwig, Barbara B Biesecker, Katie L Lewis, Leslie G Biesecker, Cynthia A James, William M P Klein
BACKGROUND: Clinical genetic testing for heritable cardiovascular disease has become a widely used tool to aid in the management of patients and their families. A 5-category variant classification system is commonly used for genetic test results, but some laboratories further subclassify variants of uncertain significance. How and whether patients perceive differences among the variant categories or subclassifications of variants of uncertain significance is unknown. METHODS: We tested whether participants perceived differences in genetic variant subclassifications on outcomes including risk comprehension, risk perception, worry, perceived uncertainty, and intentions...
June 2018: Circulation. Genomic and precision medicine
N Y Tamburus, R Verlengia, V C Kunz, M C César, E Silva
Physical training has been strongly recommended as a non-pharmacological treatment for coronary artery disease (CAD). Genetic polymorphisms have been studied to understand the biological variability in response to exercise among individuals. This study aimed to verify the possible influence of apolipoprotein B (ApoB: rs1042031 and rs693) and angiotensin-converting enzyme (ACE-ID: rs1799752) genotypes on the lipid profile and functional aerobic capacity, respectively, after an aerobic interval training (AIT) program in patients with CAD and/or cardiovascular risk factors...
2018: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
Arsalan Khaledifar, Morteza Hashemzadeh, Kamal Solati, Hosseion Poustchi, Valentina Bollati, Ali Ahmadi, Soleiman Kheiri, Keihan Ghatreh Samani, Mehdi Banitalebi, Morteza Sedehi, Reza Malekzadeh
BACKGROUND: Prospective cohort studies are considered ideal choices to study multiple outcomes and risk factors for Non-communicable diseases (NCDs). Our aim is to set-up the protocol and analyze risk factors, incidence rates, prevalence, trends, and the models of environmental and genetic determinants of NCDs and their outcomes as well as interaction among such determinants. METHODS: Shahrekord cohort study (SCS) that is a population-based prospective, study on a cohort consisting of people aged 35-70 years started in November 2015 in Iran...
May 25, 2018: BMC Public Health
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