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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/29108839/association-between-a-mir499a-polymorphism-and-diabetic-neuropathy-in-type-2-diabetes
#1
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
#2
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
#3
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
#4
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
https://www.readbyqxmd.com/read/29081004/cardiovascular-autonomic-dysfunction-in-patients-with-idiopathic-diabetes-insipidus
#5
Mattia Barbot, Filippo Ceccato, Marialuisa Zilio, Nora Albiger, Riccardo Sigon, Giuseppe Rolma, Marco Boscaro, Carla Scaroni, Franca Bilora
INTRODUCTION: Central diabetes insipidus (DI) is a rare disease characterized by the excretion of excessive volumes of dilute urine due to reduced levels of the antidiuretic hormone arginine vasopressin (AVP), caused by an acquired or genetic defect in the neurohypophysis. The aim of this study was to identify any autonomic dysfunction (AD) in patients with DI as a possible cofactor responsible for their reportedly higher mortality. METHODS: The study involved 12 patients (6 females) with central idiopathic DI and a well-controlled electrolyte balance, and 12 controls matched for age, sex and cardiovascular risk factors, who were assessed using the tilt, lying-to-standing, hand grip, deep breath, Valsalva maneuver and Stroop tests...
October 28, 2017: Pituitary
https://www.readbyqxmd.com/read/29064534/benefits-of-laboratory-personalized-antiplatelet-therapy-in-patients-undergoing-percutaneous-coronary-intervention-a-meta-analysis-of-randomized-controlled-trials
#6
Yong Zhang, Pei Zhang, Zhan Li, Juanjuan Du, Jiangrong Wang, Xiuqing Tian, Mei Gao, Yinglong Hou
BACKGROUND: The preventive effects of laboratory personalized antiplatelet therapy (PAPT) strategy including genetic detection and platelet function testing (PFT) on major adverse cardiac events (MACEs) and bleeding events in coronary artery disease (CAD) patients undergoing stenting has been extensively studied. Despite that, no clear conclusion can be drawn. In this study, a meta-analysis was performed to explore a more precise estimation of the benefits of laboratory PAPT. METHODS: Randomized controlled trials were identified by the use of search databases such as PubMed, Embase, and Cochrane Controlled Trials Register up to May 2017, and the estimates were pooled...
October 24, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/29050682/effect-of-exceptional-parental-longevity-and-lifestyle-factors-on-prevalence-of-cardiovascular-disease-in-offspring
#7
Sriram Gubbi, Elianna Schwartz, Jill Crandall, Joe Verghese, Roee Holtzer, Gil Atzmon, Rebecca Braunstein, Nir Barzilai, Sofiya Milman
Offspring of parents with exceptional longevity (OPEL) manifest lower prevalence of cardiovascular disease (CVD), but the role of lifestyle factors in this unique cohort is not known. Our study tested whether OPEL have lesser prevalence of CVD independent of lifestyle factors. Prevalence of CVD and CVD risk factors was assessed in a population of community-dwelling Ashkenazi Jewish adults aged 65 to 94 years. Participants included OPEL (n = 395), defined as having at least 1 parent living past the age of 95 years, and offspring of parents with usual survival (OPUS, n = 450), defined as having neither parent survive to 95 years...
September 18, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/29040868/identification-of-a-novel-proinsulin-associated-snp-and-demonstration-that-proinsulin-is-unlikely-to-be-a-causal-factor-in-subclinical-vascular-remodelling-using-mendelian-randomisation
#8
Rona J Strawbridge, Angela Silveira, Marcel den Hoed, Stefan Gustafsson, Jian'an Luan, Denis Rybin, Josée Dupuis, Ruifang Li-Gao, Maryam Kavousi, Abbas Dehghan, Kadri Haljas, Jari Lahti, Jesper R Gådin, Alexandra Bäcklund, Ulf de Faire, Karl Gertow, Phillipe Giral, Anuj Goel, Steve E Humphries, Sudhir Kurl, Claudia Langenberg, Lars L Lannfelt, Lars Lind, Cecilia C M Lindgren, Elmo Mannarino, Dennis O Mook-Kanamori, Andrew P Morris, Renée de Mutsert, Rainer Rauramaa, Peter Saliba-Gustafsson, Bengt Sennblad, Andries J Smit, Ann-Christine Syvänen, Elena Tremoli, Fabrizio Veglia, Björn Zethelius, Hanna M Björck, Johan G Eriksson, Albert Hofman, Oscar H Franco, Hugh Watkins, J Wouter Jukema, Jose C Florez, Nicholas J Wareham, James B Meigs, Erik Ingelsson, Damiano Baldassarre, Anders Hamsten
BACKGROUND AND AIMS: Increased proinsulin relative to insulin levels have been associated with subclinical atherosclerosis (measured by carotid intima-media thickness (cIMT)) and are predictive of future cardiovascular disease (CVD), independently of established risk factors. The mechanisms linking proinsulin to atherosclerosis and CVD are unclear. A genome-wide meta-analysis has identified nine loci associated with circulating proinsulin levels. Using proinsulin-associated SNPs, we set out to use a Mendelian randomisation approach to test the hypothesis that proinsulin plays a causal role in subclinical vascular remodelling...
November 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29039830/-role-of-agtr1-a-c-polymorphism-in-the-development-of-atrial-fibrillation
#9
A V Kuskaeva, S Yu Nikulina, A A Chernova, N V Aksyutina, A P Kuskaev, I I Cherkashina
AIM: To investigate the AGTR1 A/C polymorphism associated with atrial fibrillation (AF) to form risk groups among patients who are prone to this disease. SUBJECTS AND METHODS: 90 probands with a confirmed diagnosis of AF and their 144 first-, second-, and third-degree relatives were examined. These families made up a study group. A control group was formed of 100 apparently healthy individuals without a history of cardiovascular diseases. Collection of medical history data and complaints, electrocardiography, electrocardiogram monitoring, as well as molecular genetic analysis, thyroid hormone tests were done in all the patients...
2017: Terapevticheskiĭ Arkhiv
https://www.readbyqxmd.com/read/29033513/the-endothelial-nitric-oxide-synthase-nos3-786t-c-genetic-polymorphism-in-chronic-heart-failure-effects-of-mutant-786c-allele-on-long-term-mortality
#10
Sait Terzi, Ayşe Emre, Kemal Yesilcimen, Selçuk Yazıcı, Aysun Erdem, Ufuk Sadik Ceylan, Figen Ciloglu
BACKGROUND: Nitric oxide plays an important role in the regulation of basal vascular tone and cardiac myocyte function. We investigated the NOS3-786T>C polymorphism in chronic heart failure (CHF) and its effects on long-term mortality. METHODS: Ninety-one patients with CHF who were referred to the Department of Cardiology of Siyami Ersek Cardiovascular and Thoracic Surgery Center for cardiopulmonary exercise testing between April 2001 and January 2004 and 30 controls were enrolled in this study...
July 2017: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/28985495/mendelian-randomization-analysis-identifies-cpg-sites-as-putative-mediators-for-genetic-influences-on-cardiovascular-disease-risk
#11
Tom G Richardson, Jie Zheng, George Davey Smith, Nicholas J Timpson, Tom R Gaunt, Caroline L Relton, Gibran Hemani
The extent to which genetic influences on cardiovascular disease risk are mediated by changes in DNA methylation levels has not been systematically explored. We developed an analytical framework that integrates genetic fine mapping and Mendelian randomization with epigenome-wide association studies to evaluate the causal relationships between methylation levels and 14 cardiovascular disease traits. We identified ten genetic loci known to influence proximal DNA methylation which were also associated with cardiovascular traits after multiple-testing correction...
October 5, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28982122/genetic-variation-associated-with-cardiovascular-risk-in-autoimmune-diseases
#12
Pedro P Perrotti, Adrià Aterido, Antonio Fernández-Nebro, Juan D Cañete, Carlos Ferrándiz, Jesús Tornero, Javier P Gisbert, Eugeni Domènech, Benjamín Fernández-Gutiérrez, Fernando Gomollón, Esther García-Planella, Emilia Fernández, Raimon Sanmartí, Jordi Gratacós, Víctor Manuel Martínez-Taboada, Luís Rodríguez-Rodríguez, Núria Palau, Raül Tortosa, Mireia L Corbeto, María L Lasanta, Sara Marsal, Antonio Julià
Autoimmune diseases have a higher prevalence of cardiovascular events compared to the general population. The objective of this study was to investigate the genetic basis of cardiovascular disease (CVD) risk in autoimmunity. We analyzed genome-wide genotyping data from 6,485 patients from six autoimmune diseases that are associated with a high socio-economic impact. First, for each disease, we tested the association of established CVD risk loci. Second, we analyzed the association of autoimmune disease susceptibility loci with CVD...
2017: PloS One
https://www.readbyqxmd.com/read/28973083/use-of-exome-sequencing-for-infants-in-intensive-care-units-ascertainment-of-severe-single-gene-disorders-and-effect-on-medical-management
#13
Linyan Meng, Mohan Pammi, Anirudh Saronwala, Pilar Magoulas, Andrew Ray Ghazi, Francesco Vetrini, Jing Zhang, Weimin He, Avinash V Dharmadhikari, Chunjing Qu, Patricia Ward, Alicia Braxton, Swetha Narayanan, Xiaoyan Ge, Mari J Tokita, Teresa Santiago-Sim, Hongzheng Dai, Theodore Chiang, Hadley Smith, Mahshid S Azamian, Laurie Robak, Bret L Bostwick, Christian P Schaaf, Lorraine Potocki, Fernando Scaglia, Carlos A Bacino, Neil A Hanchard, Michael F Wangler, Daryl Scott, Chester Brown, Jianhong Hu, John W Belmont, Lindsay C Burrage, Brett H Graham, Vernon Reid Sutton, William J Craigen, Sharon E Plon, James R Lupski, Arthur L Beaudet, Richard A Gibbs, Donna M Muzny, Marcus J Miller, Xia Wang, Magalie S Leduc, Rui Xiao, Pengfei Liu, Chad Shaw, Magdalena Walkiewicz, Weimin Bi, Fan Xia, Brendan Lee, Christine M Eng, Yaping Yang, Seema R Lalani
Importance: While congenital malformations and genetic diseases are a leading cause of early infant death, to our knowledge, the contribution of single-gene disorders in this group is undetermined. Objective: To determine the diagnostic yield and use of clinical exome sequencing in critically ill infants. Design, Setting, and Participants: Clinical exome sequencing was performed for 278 unrelated infants within the first 100 days of life who were admitted to Texas Children's Hospital in Houston, Texas, during a 5-year period between December 2011 and January 2017...
October 2, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28971959/testing-genetic-pleiotropy-with-gwas-summary-statistics-for-marginal-and-conditional-analyses
#14
Yangqing Deng, Wei Pan
There is a growing interest in testing genetic pleiotropy, which is when a single genetic variant influences multiple traits. Several methods have been proposed, which however have some limitations. First, all the proposed methods are based on the use of individual-level genotype and phenotype data; in contrast, for logistic and other reasons, typically only summary statistics of univariate SNP-trait associations are available based on meta- or mega-analyzed large genome-wide association study (GWAS) data. Second, existing tests are based on marginal pleiotropy, which cannot distinguish direct and indirect associations of a single genetic variant with multiple traits due to correlations among the traits...
October 2, 2017: Genetics
https://www.readbyqxmd.com/read/28912339/reproductive-and-metabolic-features-during-puberty-in-sons-of-women-with-polycystic-ovary-syndrome
#15
Nicolás Crisosto, Bárbara Echiburú, Manuel Maliqueo, Marta Luchsinger, Pedro Rojas, Sergio Recabarren, Teresa Sir-Petermann
CONTEXT: Intrauterine life may be implicated in the origin of polycystic ovary syndrome (PCOS) modifying the endocrine and metabolic functions of children born to PCOS mothers independently of the genetic inheritance and gender. The aim of the present study was to evaluate the reproductive and metabolic functions in sons of women with PCOS during puberty. METHODS: Sixty-nine PCOS sons (PCOSs) and 84 control sons of 7-18 years old matched by the Tanner stage score were studied...
November 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28895585/habitual-sleep-duration-and-sleep-duration-variation-are-independently-associated-with-body-mass-index
#16
X Xu, M P Conomos, O Manor, J E Rohwer, A T Magis, J C Lovejoy
BACKGROUND: Sleep plays a vital role in maintaining homeostasis and promoting health. Previous studies show that shorter sleep duration is associated with elevated body mass index (BMI) and other cardiovascular risk factors. The goal of this study was to investigate the effects of habitual sleep duration and nightly sleep duration variation based on daily device-recorded data on BMI and obesity-related biomarkers. METHOD: 748 individuals (50.6% females, 85.4% European-Americans, average age: 49...
September 12, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28893184/the-canadian-hiv-and-aging-cohort-study-determinants-of-increased-risk-of-cardio-vascular-diseases-in-hiv-infected-individuals-rationale-and-study-protocol
#17
Madeleine Durand, Carl Chartrand-Lefebvre, Jean-Guy Baril, Sylvie Trottier, Benoit Trottier, Marianne Harris, Sharon Walmsley, Brian Conway, Alexander Wong, Jean-Pierre Routy, Colin Kovacs, Paul A MacPherson, Kenneth Marc Monteith, Samer Mansour, George Thanassoulis, Michal Abrahamowicz, Zhitong Zhu, Christos Tsoukas, Petronela Ancuta, Nicole Bernard, Cécile L Tremblay
BACKGROUND: With potent antiretroviral drugs, HIV infection is becoming a chronic disease. Emergence of comorbidities, particularly cardiovascular disease (CVD) has become a leading concern for patients living with the infection. We hypothesized that the chronic and persistent inflammation and immune activation associated with HIV disease leads to accelerated aging, characterized by CVD. This will translate into higher incidence rates of CVD in HIV infected participants, when compared to HIV negative participants, after adjustment for traditional CVD risk factors...
September 11, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28892404/mechanisms-underlying-metabolic-disturbances-associated-with-psychosis-and-antipsychotic-drug-treatment
#18
Gavin P Reynolds, Olga O McGowan
The increase in cardiovascular disease and reduced life expectancy in schizophrenia likely relate to an increased prevalence of metabolic disturbances. Such metabolic risk factors in schizophrenia may result from both symptom-related effects and aetiological factors. However, a major contributory factor is that of treatment with antipsychotic drugs. These drugs differ in effects on body weight; the underlying mechanisms are not fully understood and may vary between drugs, but may include actions at receptors associated with the hypothalamic control of food intake...
August 1, 2017: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/28886926/2017-focused-update-of-the-2016%C3%A2-acc%C3%A2-expert-consensus-decision-pathway-on-the-role-of-non-statin-therapies-for-ldl-cholesterol-lowering-in%C3%A2-the-management-of-atherosclerotic-cardiovascular-disease-risk-a-report-of-the-american-college-of-cardiology-task-force
#19
Donald M Lloyd-Jones, Pamela B Morris, Christie M Ballantyne, Kim K Birtcher, David D Daly, Sondra M DePalma, Margo B Minissian, Carl E Orringer, Sidney C Smith
In 2016, the American College of Cardiology published the first expert consensus decision pathway (ECDP) on the role of non-statin therapies for low-density lipoprotein (LDL)-cholesterol lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk. Since the publication of that document, additional evidence and perspectives have emerged from randomized clinical trials and other sources, particularly considering the longer-term efficacy and safety of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in secondary prevention of ASCVD...
October 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28882114/associations-of-genetic-variants-of-endothelin-with-cardiovascular-complications-in-patients-with-renal-failure
#20
Chih-Chin Kao, Shih-Ying Cheng, Mei-Yi Wu, Shu-Chen Chien, Hsing-Fang Lu, Yu-Wen Hsu, Yan-Feng Zhang, Mai-Szu Wu, Wei-Chiao Chang
BACKGROUND: Cardiovascular (CV) complications are the main cause of death in end-stage renal disease (ESRD) patients. The high CV risks are attributable to the additive effects of multiple factors. Endothelin (EDN) is a potent vasoconstrictor and plays a role in regulating vascular homeostasis. However, whether variants of the EDN gene are associated with risks of CV events is not known. We conducted a study to investigate associations of variants of the EDN gene with CV events in ESRD patients...
September 7, 2017: BMC Nephrology
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