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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/28209224/systematic-evaluation-of-pleiotropy-identifies-6-further-loci-associated-with%C3%A2-coronary-artery%C3%A2-disease
#1
Thomas R Webb, Jeanette Erdmann, Kathleen E Stirrups, Nathan O Stitziel, Nicholas G D Masca, Henning Jansen, Stavroula Kanoni, Christopher P Nelson, Paola G Ferrario, Inke R König, John D Eicher, Andrew D Johnson, Stephen E Hamby, Christer Betsholtz, Arno Ruusalepp, Oscar Franzén, Eric E Schadt, Johan L M Björkegren, Peter E Weeke, Paul L Auer, Ursula M Schick, Yingchang Lu, He Zhang, Marie-Pierre Dube, Anuj Goel, Martin Farrall, Gina M Peloso, Hong-Hee Won, Ron Do, Erik van Iperen, Jochen Kruppa, Anubha Mahajan, Robert A Scott, Christina Willenborg, Peter S Braund, Julian C van Capelleveen, Alex S F Doney, Louise A Donnelly, Rosanna Asselta, Pier A Merlini, Stefano Duga, Nicola Marziliano, Josh C Denny, Christian Shaffer, Nour Eddine El-Mokhtari, Andre Franke, Stefanie Heilmann, Christian Hengstenberg, Per Hoffmann, Oddgeir L Holmen, Kristian Hveem, Jan-Håkan Jansson, Karl-Heinz Jöckel, Thorsten Kessler, Jennifer Kriebel, Karl L Laugwitz, Eirini Marouli, Nicola Martinelli, Mark I McCarthy, Natalie R Van Zuydam, Christa Meisinger, Tõnu Esko, Evelin Mihailov, Stefan A Escher, Maris Alver, Susanne Moebus, Andrew D Morris, Jarma Virtamo, Majid Nikpay, Oliviero Olivieri, Sylvie Provost, Alaa AlQarawi, Neil R Robertson, Karen O Akinsansya, Dermot F Reilly, Thomas F Vogt, Wu Yin, Folkert W Asselbergs, Charles Kooperberg, Rebecca D Jackson, Eli Stahl, Martina Müller-Nurasyid, Konstantin Strauch, Tibor V Varga, Melanie Waldenberger, Lingyao Zeng, Rajiv Chowdhury, Veikko Salomaa, Ian Ford, J Wouter Jukema, Philippe Amouyel, Jukka Kontto, Børge G Nordestgaard, Jean Ferrières, Danish Saleheen, Naveed Sattar, Praveen Surendran, Aline Wagner, Robin Young, Joanna M M Howson, Adam S Butterworth, John Danesh, Diego Ardissino, Erwin P Bottinger, Raimund Erbel, Paul W Franks, Domenico Girelli, Alistair S Hall, G Kees Hovingh, Adnan Kastrati, Wolfgang Lieb, Thomas Meitinger, William E Kraus, Svati H Shah, Ruth McPherson, Marju Orho-Melander, Olle Melander, Andres Metspalu, Colin N A Palmer, Annette Peters, Daniel J Rader, Muredach P Reilly, Ruth J F Loos, Alex P Reiner, Dan M Roden, Jean-Claude Tardif, John R Thompson, Nicholas J Wareham, Hugh Watkins, Cristen J Willer, Nilesh J Samani, Heribert Schunkert, Panos Deloukas, Sekar Kathiresan
BACKGROUND: Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES: This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysis of the extent of pleiotropy of all CAD loci. METHODS: In discovery analyses involving 42,335 CAD cases and 78,240 control subjects we tested the association of 29,383 common (minor allele frequency >5%) single nucleotide polymorphisms available on the exome array, which included a substantial proportion of known or suspected single nucleotide polymorphisms associated with common diseases or traits as of 2011...
February 21, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28183512/a-test-in-context-lipoprotein-a-diagnosis-prognosis-controversies-and-emerging-therapies
#2
REVIEW
Sotirios Tsimikas
Evidence that elevated lipoprotein(a) (Lp[a]) levels contribute to cardiovascular disease (CVD) and calcific aortic valve stenosis (CAVS) is substantial. Development of isoform-independent assays, in concert with genetic, epidemiological, translational, and pathophysiological insights, have established Lp(a) as an independent, genetic, and likely causal risk factor for CVD and CAVS. These observations are consistent across a broad spectrum of patients, risk factors, and concomitant therapies, including patients with low-density lipoprotein cholesterol <70 mg/dl...
February 14, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28167435/troponin-t-levels-associated-with-genetic-variants-in-notch2-and-mtnr1b-in-women-with-psychosis
#3
Dzana Sudic Hukic, Catharina Lavebratt, Eric Olsson, Claes-Göran Östenson, Sven V Eriksson, David Erlinge, Martin Schalling, Urban Ösby
Psychosis patients have increased prevalence of metabolic disorders, which increase the risk for cardiovascular disease. Elevated troponin T level is an early biomarker of cardiovascular damage. We tested for association between troponin T levels and genetic risk variants of elevated blood glucose level in psychosis. Glucose and troponin T levels correlated positively. MTNR1B rs10830963 and NOTCH2 rs10923931 associated with troponin T levels in women, adjusted for glucose levels. These findings may indicate metabolic genetic influences on troponin T levels among women with psychosis...
January 20, 2017: Psychiatry Research
https://www.readbyqxmd.com/read/28166833/slc12a3-variants-modulate-ldl-cholesterol-levels-in-the-mongolian-population
#4
Caiyan An, Kejin Zhang, Xiulan Su
BACKGROUND: Abnormalities in lipid metabolism are crucial factors in the pathogenesis of cardiovascular disease (CVD). Variants of many genes have been verified to confer risk for lipid metabolism abnormalities. However, the relationship between genetic variants of the NCC-encoding SLC12A3 gene and lipid metabolism in the Mongolian population remains unclear. In the present study, we aimed to elucidate the effects of SLC12A3 variants on Mongolian lipid metabolism, including total cholesterol (TCHO), triglycerides (TG), low-density lipoprotein cholesterol (LDL-c), and high-density lipoprotein cholesterol (HDL-c)...
February 6, 2017: Lipids in Health and Disease
https://www.readbyqxmd.com/read/28164629/a-controversial-new-approach-to-address-hematological-parameters-in-hashimoto-s-thyroiditis
#5
Dilek Arpaci, Gonul Gurol, Hasan Ergenc, Hayrullah Yazar, Aysel G Tocoglu, Ihsan H Ciftci, Ali Tamer
BACKGROUND: Hashimoto's thyroiditis (HT) is a common autoimmune disorder. Genetic, environmental, and immunological factors all play a role in the pathogenesis of HT, but the effects of lymphocytes and platelets on the pathophysiology of HT are still unknown. In this study, we evaluated the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and mean platelet volume (MPV) in HT groups and HT subgroups with low cardiovascular risks. METHODS: This study included 92 patients with HT and 38 control subjects...
July 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28164424/filaggrin-loss-of-function-mutations-as-risk-factors-for-ischemic-stroke-in-the-general-population
#6
Anette Varbo, Børge G Nordestgaard, Marianne Benn
BACKGROUND: Heritability studies have shown a considerable genetic component to ischemic stroke risk; however, much is unknown as to which genes are responsible. Also, previous studies have found an association between atopic dermatitis and increased ischemic stroke risk. OBJECTIVE: To test the hypothesis that FLG loss-of-function mutations, known to be associated with atopic dermatitis, were also associated with ischemic stroke. METHODS: 97,174 individuals, with 3,597 cases of ischemic stroke, from the Copenhagen General Population Study, the Copenhagen City Heart Study, and the Copenhagen Carotid Stroke Study were genotyped for the two most common filaggrin mutations, FLG R501X and FLG 2282del4...
February 6, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28159868/using-murine-derived-primary-intestinal-enteroids-for-studies-of-dietary-triglyceride-absorption-and-lipoprotein-synthesis-and-to-determine-the-role-of-intestine-specific-apoc-iii
#7
Javeed J Jattan, Cayla N Rodia, Diana Li, Adama C Diakhate, Hongli Dong, Amy M Bataille, Noah F Shroyer, Alison B Kohan
Since its initial report in 2009, the intestinal enteroid culture system has been a powerful tool used to study stem cell biology and development in the gastrointestinal tract. However, a major question is whether enteroids retain intestinal function and physiology. There have been significant contributions describing ion transport physiology of human intestinal organoid cultures, as well as physiology of gastric organoids, but critical studies on dietary fat absorption and chylomicron synthesis in primary intestinal enteroids have not been undertaken...
February 3, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28134710/mortal-allies-human-immunodeficiency-virus-and-noncommunicable-diseases
#8
Elizabeth S Mayne, Jaya A George
PURPOSE OF REVIEW: HIV-infected individuals have improved access to antiretroviral therapy. This has resulted in a shift in causes of mortality from infectious diseases to noncommunicable diseases including cardiovascular disease, chronic kidney disease (CKD) and malignancies. This review will look at the epidemiological shift, risk factors for the development of these diseases and examine some of the supporting laboratory diagnostic testing, which may be required. RECENT FINDINGS: Risk factors for the development of these diseases in HIV-infected patients include underlying genetic predisposition, lifestyle risk factors, chronic inflammation as a consequence of HIV infection, the presence and persistence of opportunistic infections and in some cases, highly active antiretroviral therapy, itself...
March 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/28119442/metabolic-syndrome-in-men-metsim-study-a-resource-for-studies-of-metabolic-and-cardiovascular-diseases
#9
Markku Laakso, Johanna Kuusisto, Alena Stancakova, Teemu Kuulasmaa, Päivi Pajukanta, Aldons Jake Lusis, Francis S Collins, Karen Mohlke, Michael Boehnke
METabolic Syndrome In Men (METSIM) study is a population-based study including 10,197 Finnish men examined in 2005-2010. The aim of the study is to investigate non-genetic and genetic factors associated with the risk of type 2 diabetes and cardiovascular disease, and with cardiovascular risk factors. The protocol includes a detailed phenotyping of the participants, an oral glucose tolerance test, fasting laboratory measurements including proton nuclear magnetic resonance measurements, mass spectometry metabolomics, adipose tissue biopsies from 1,400 participants, and a stool sample...
January 24, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#10
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28075528/prospective-evaluation-of-genetic-variation-in-platelet-endothelial-aggregation-receptor-1-reveals-aspirin-dependent-effects-on-platelet-aggregation-pathways
#11
J D Backman, L M Yerges-Armstrong, R B Horenstein, S Newcomer, S Shaub, M Morrisey, P Donnelly, M Drolet, K Tanner, M A Pavlovich, J R O'Connell, B D Mitchell, J P Lewis
Genetic variation in the platelet endothelial aggregation receptor 1 (PEAR1) gene, most notably rs12041331, is implicated in altered on-aspirin platelet aggregation and increased cardiovascular event risk. We prospectively tested the effects of aspirin administration at commonly prescribed doses (81, 162, and 324 mg/day) on agonist-induced platelet aggregation by rs12041331 genotype in 67 healthy individuals. Prior to aspirin administration, rs12041331 minor allele carriers had significantly reduced adenosine diphosphate (ADP)-induced platelet aggregation compared with noncarriers (P = 0...
January 11, 2017: Clinical and Translational Science
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#12
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
January 11, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28069601/comprehensive-multi-modality-imaging-approach-in-arrhythmogenic-cardiomyopathy-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#13
Kristina H Haugaa, Cristina Basso, Luigi P Badano, Chiara Bucciarelli-Ducci, Nuno Cardim, Oliver Gaemperli, Maurizio Galderisi, Gilbert Habib, Juhani Knuuti, Patrizio Lancellotti, William McKenna, Danilo Neglia, Bogdan A Popescu, Thor Edvardsen
Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias...
January 9, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28063875/clinical-worthlessness-of-genetic-prediction-of-common-forms-of-diabetes-mellitus-and-related-chronic-complications-a-position-statement-of-the-italian-society-of-diabetology
#14
REVIEW
R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
August 26, 2016: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28062618/use-of-biomarkers-in-predicting-the-onset-monitoring-the-progression-and-risk-stratification-for-patients-with-type-2-diabetes-mellitus
#15
REVIEW
Benjamin M Scirica
BACKGROUND: As the worldwide prevalence of type 2 diabetes mellitus (T2DM) increases, it is even more important to develop cost-effective methods to predict and diagnose the onset of diabetes, monitor progression, and risk stratify patients in terms of subsequent cardiovascular and diabetes complications. CONTENT: Nonlaboratory clinical risk scores based on risk factors and anthropomorphic data can help identify patients at greatest risk of developing diabetes, but glycemic indices (hemoglobin A1c, fasting plasma glucose, and oral glucose tolerance tests) are the cornerstones for diagnosis, and the basis for monitoring therapy...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28059156/genetic-screening-in-arterial-hypertension
#16
REVIEW
Gian Paolo Rossi, Giulio Ceolotto, Brasilina Caroccia, Livia Lenzini
Studies involving adoptive families and twins have demonstrated the genetic basis of hypertension and shown that genetic factors account for about 40% of the variance in blood pressure among individuals. Arterial hypertension is genetically complex: multiple genes influence the blood pressure phenotype through allelic effects from single genes and gene-gene interactions. Moreover, environmental factors also modify the blood pressure phenotype. This complexity explains why the identification of the underlying genes has not been as successful in hypertension as in other diseases (such as type 1 and type 2 diabetes mellitus)...
January 6, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28055992/-practicality-of-cardiovascular-risk-functions
#17
Jaume Marrugat, Roberto Elosua, Gloria Icaza, Alberto Morales-Salinas, Irene R Dégano
Cardiovascular diseases prevention strategies require refinement because their incidence decreases very slowly. Risk functions were developed by including classical cardiovascular risk factors (age, sex, smoking, diabetes, blood pressure, and basic lipid profile) in cohorts followed more than 10 years. They are reasonably precise for population screening of, principally, coronary artery disease risk, required in all cardiovascular primary prevention clinical guidelines. Coronary artery disease risk functions classify patients in risk strata to concentrate the maximum therapeutic and life style effort in the highest risk groups, in which the number needed to treat and cost-effectiveness are optimal...
December 13, 2016: Medwave
https://www.readbyqxmd.com/read/28033544/complement-receptor-1-gene-polymorphisms-are-associated-with-cardiovascular-risk
#18
Marijke A de Vries, Stella Trompet, Simon P Mooijaart, Roelof A J Smit, Stefan Böhringer, Manuel Castro Cabezas, J Wouter Jukema
BACKGROUND AND AIMS: Inflammation plays a key role in atherosclerosis. The complement system is involved in atherogenesis, and the complement receptor 1 (CR1) plays a role facilitating the clearance of immune complexes from the circulation. Limited evidence suggests that CR1 may be involved in cardiovascular disease. We investigated the relationship between CR1 gene polymorphisms and cardiovascular risk. METHODS: Single nucleotide polymorphisms (SNPs) within the CR1 region (n = 73) on chromosome 1 were assessed in 5244 participants in PROSPER (PROspective Study of Pravastatin in the Elderly at Risk) (mean age 75...
February 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28031319/apolipoprotein-e4-is-associated-with-improved-cognitive-function-in-amazonian-forager-horticulturalists-with-a-high-parasite-burden
#19
Benjamin C Trumble, Jonathan Stieglitz, Aaron D Blackwell, Hooman Allayee, Bret Beheim, Caleb E Finch, Michael Gurven, Hillard Kaplan
The apolipoprotein E4 (E4) allele is present worldwide, despite its associations with higher risk of cardiovascular morbidity, accelerated cognitive decline during aging, and Alzheimer 'S: disease (AD). The E4 allele is especially prevalent in some tropical regions with a high parasite burden. Equatorial populations also face a potential dual burden of high E4 prevalence combined with parasitic infections that can also reduce cognitive performance. We examined the interactions of E4, parasite burden, and cognitive performance in a traditional, nonindustrialized population of Amazonian forager-horticulturalists (N = 372) to test whether E4 protects against cognitive decline in environments with a heavy pathogen burden...
December 28, 2016: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28031317/coffee-intake-cardiovascular-disease-and-all-cause-mortality-observational-and-mendelian-randomization-analyses-in-95%C3%A2-000-223%C3%A2-000-individuals
#20
Ask Tybjærg Nordestgaard, Børge Grønne Nordestgaard
BACKGROUND: Coffee has been associated with modestly lower risk of cardiovascular disease and all-cause mortality in meta-analyses; however, it is unclear whether these are causal associations. We tested first whether coffee intake is associated with cardiovascular disease and all-cause mortality observationally; second, whether genetic variations previously associated with caffeine intake are associated with coffee intake; and third, whether the genetic variations are associated with cardiovascular disease and all-cause mortality...
December 28, 2016: International Journal of Epidemiology
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