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cardiovascular disease genetic risk assessment

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https://www.readbyqxmd.com/read/28515798/epigenome-wide-association-of-myocardial-infarction-with-dna-methylation-sites-at-loci-related-to-cardiovascular-disease
#1
Masahiro Nakatochi, Sahoko Ichihara, Ken Yamamoto, Keiko Naruse, Shigeki Yokota, Hiroyuki Asano, Tatsuaki Matsubara, Mitsuhiro Yokota
BACKGROUND: Development of cardiovascular disease (CVD), including coronary artery disease, arrhythmia, and ischemic stroke, depends on environmental and genetic factors. To investigate the epigenetic basis of myocardial infarction (MI), we performed an epigenome-wide association study for this condition in elderly Japanese subjects. A total of 192 case subjects with MI and 192 control subjects were recruited from hospital attendees and the general population, respectively. Genome-wide DNA methylation (DNAm) profiles for DNA isolated from whole blood were obtained by analysis with an Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
https://www.readbyqxmd.com/read/28492093/higher-prevalence-of-cerebral-white-matter-hyperintensities-in-homozygous-apoe-%C3%A9-4-allele-carriers-aged-45-75-results-from-the-alfa-study
#2
Santiago Rojas, Anna Brugulat-Serrat, Nuria Bargalló, Carolina Minguillón, Alan Tucholka, Carles Falcon, Andreia Carvalho, Sebastian Morán, Manel Esteller, Nina Gramunt, Karine Fauria, Jordi Camí, José L Molinuevo, Juan D Gispert
Cerebral white matter hyperintensities are believed the consequence of small vessel disease and are associated with risk and progression of Alzheimer's disease. The ɛ4 allele of the APOE gene is the major factor accountable for Alzheimer's disease heritability. However, the relationship between white matter hyperintensities and APOE genotype in healthy subjects remains controversial. We investigated the association between APOE-ɛ4 and vascular risk factors with white matter hyperintensities, and explored their interactions, in a cohort of cognitively healthy adults (45-75 years)...
January 1, 2017: Journal of Cerebral Blood Flow and Metabolism
https://www.readbyqxmd.com/read/28475226/molecular-cytogenetic-characterization-of-five-f8-complex-rearrangements-utility-for-haemophilia-a-genetic-counselling
#3
Y Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA)...
May 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28473221/cyp2c19-activity-and-cardiovascular-risk-factors-in-patients-with-an-acute-coronary-syndrome
#4
Efrén Martínez-Quintana, Fayna Rodríguez-González, José María Medina-Gil, Paloma Garay-Sánchez, Antonio Tugores
INTRODUCTION: CYP2C19 is a major isoform of cytochrome P450 that metabolizes a number of drugs and is involved in the glucocorticoids synthesis. CYP2C19 polymorphisms have been associated with the genetic risk for type 2 diabetes. METHODS: Five hundred and three patients with an acute coronary event were studied to assess the association between the CYP2C19 activity (CYP2C19*2, CYP2C19*3 and CYP2C19*17 variants) and the type of acute coronary syndrome, cardiovascular risk factors (arterial systemic hypertension, diabetes mellitus, dyslipidemia and smoking), analytical parameters and the extent and severity of coronary atherosclerosis...
May 1, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28468844/space-and-location-of-cerebral-microbleeds-cognitive-decline-and-dementia-in-the-community
#5
Jie Ding, Sigurður Sigurðsson, Pálmi V Jónsson, Gudny Eiriksdottir, Osorio Meirelles, Olafur Kjartansson, Oscar L Lopez, Mark A van Buchem, Vilmundur Gudnason, Lenore J Launer
OBJECTIVE: To assess the association of the number and anatomic location of cerebral microbleeds (CMBs), visible indicators of microvascular damage on MRI, with incident cognitive disease in the general population of older people. METHODS: In the longitudinal population-based Age, Gene/Environment Susceptibility (AGES)-Reykjavik Study, 2,602 participants 66 to 93 years of age and free of prevalent dementia underwent brain MRI and cognitive testing of verbal memory, processing speed, and executive function at baseline and a mean of 5...
May 3, 2017: Neurology
https://www.readbyqxmd.com/read/28444290/low-density-lipoproteins-cause-atherosclerotic-cardiovascular-disease-1-evidence-from-genetic-epidemiologic-and-clinical-studies-a-consensus-statement-from-the-european-atherosclerosis-society-consensus-panel
#6
Brian A Ference, Henry N Ginsberg, Ian Graham, Kausik K Ray, Chris J Packard, Eric Bruckert, Robert A Hegele, Ronald M Krauss, Frederick J Raal, Heribert Schunkert, Gerald F Watts, Jan Borén, Sergio Fazio, Jay D Horton, Luis Masana, Stephen J Nicholls, Børge G Nordestgaard, Bart van de Sluis, Marja-Riitta Taskinen, Lale Tokgözoglu, Ulf Landmesser, Ulrich Laufs, Olov Wiklund, Jane K Stock, M John Chapman, Alberico L Catapano
Aims: To appraise the clinical and genetic evidence that low-density lipoproteins (LDLs) cause atherosclerotic cardiovascular disease (ASCVD). Methods and results: We assessed whether the association between LDL and ASCVD fulfils the criteria for causality by evaluating the totality of evidence from genetic studies, prospective epidemiologic cohort studies, Mendelian randomization studies, and randomized trials of LDL-lowering therapies. In clinical studies, plasma LDL burden is usually estimated by determination of plasma LDL cholesterol level (LDL-C)...
April 24, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28433569/vitamin-d-binding-protein-rs7041-polymorphism-and-high-residual-platelet-reactivity-in-patients-receiving-dual-antiplatelet-therapy-with-clopidogrel-or-ticagrelor
#7
Monica Verdoia, Veronica Daffara, Patrizia Pergolini, Roberta Rolla, Paolo Marino, Giorgio Bellomo, Alessandro Carriero, Giuseppe De Luca
BACKGROUND: Vitamin D deficiency represents a major health problem in general population, especially for its association with cardiovascular disorders and thrombotic risk, even in patients on dual antiplatelet therapy (DAPT). Vitamin D Binding Protein (VDBP) is the main transporter of vitamin D in the bloodstream and genetic polymorphisms of this protein have been shown to account for a significant variability of vitamin D levels and its systemic effects. Contrasting data have linked the rs7041 T→G substitution with cardiovascular disease...
April 19, 2017: Vascular Pharmacology
https://www.readbyqxmd.com/read/28430919/non-coding-rnas-in-cardiovascular-diseases-diagnostic-and-therapeutic-perspectives
#8
Wolfgang Poller, Stefanie Dimmeler, Stephane Heymans, Tanja Zeller, Jan Haas, Mahir Karakas, David-Manuel Leistner, Philipp Jakob, Shinichi Nakagawa, Stefan Blankenberg, Stefan Engelhardt, Thomas Thum, Christian Weber, Benjamin Meder, Roger Hajjar, Ulf Landmesser
Recent research has demonstrated that the non-coding genome plays a key role in genetic programming and gene regulation during development as well as in health and cardiovascular disease. About 99% of the human genome do not encode proteins, but are transcriptionally active representing a broad spectrum of non-coding RNAs (ncRNAs) with important regulatory and structural functions. Non-coding RNAs have been identified as critical novel regulators of cardiovascular risk factors and cell functions and are thus important candidates to improve diagnostics and prognosis assessment...
April 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28411833/atopic-dermatitis-and-comorbidities-added-value-of-comprehensive-dermatoepidemiology
#9
Tamar Nijsten
Atopic dermatitis is common and in its severe form is devastating. This chronic inflammatory dermatosis is part of the atopic syndrome, which includes asthma, food allergies, and hay fever and is known to be associated with mental health disorders. In line with psoriasis, several recent observational studies using national survey and linkage data have suggested a link between atopic dermatitis and cardiovascular disease. The atopic dermatitis field can benefit from the past experiences in psoriasis research and should not follow the same path, but, rather, aim for a more comprehensive approach from the beginning...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28405733/association-of-il-1%C3%AE-il-1ra-and-fabp1-gene-polymorphisms-with-the-metabolic-features-of-polycystic-ovary-syndrome
#10
Nadia Rashid, Aruna Nigam, Pikee Saxena, S K Jain, Saima Wajid
BACKGROUND: Polycystic ovary syndrome (PCOS), a highly prevalent endocrinopathy is currently being designated as chronic low grade inflammatory state. IL-1β, IL-1Ra and FABP1 are critical mediators of inflammatory processes and are speculated to play a role in the pathogenesis of PCOS. The aim of this study was to study the association of IL-β, IL-1Ra and FABP1 gene polymorphisms with PCOS and related metabolic features. SUBJECTS: 95 PCOS and 45 age matched healthy control subjects were enrolled in this study...
April 12, 2017: Inflammation Research: Official Journal of the European Histamine Research Society ... [et Al.]
https://www.readbyqxmd.com/read/28395882/should-studies-on-glanzmann-thrombasthenia-not-be-telling-us-more-about-cardiovascular-disease-and-other-major-illnesses
#11
REVIEW
Alan T Nurden
Glanzmann thrombasthenia (GT) is a rare inherited bleeding disorder caused by loss of αIIbβ3 integrin function in platelets. Most genetic variants of β3 also affect the widely expressed αvβ3 integrin. With brief mention of mouse models, I now look at the consequences of disease-causing ITGA2B and ITGB3 mutations on the non-hemostatic functions of platelets and other cells. Reports of arterial thrombosis in GT patients are rare, but other aspects of cardiovascular disease do occur including deep vein thrombosis and congenital heart defects...
April 4, 2017: Blood Reviews
https://www.readbyqxmd.com/read/28379029/molecular-genetic-background-of-an-autosomal-dominant-hypercholesterolemia-in-the-czech-republic
#12
L Tichý, L Fajkusová, P Zapletalová, L Schwarzová, M Vrablík, T Freiberger
Autosomal dominant hypercholesterolemia (ADH), more known as familial hypercholesterolemia (FH), is a lipid metabolism disorder characterized by an elevation in low-density lipoprotein cholesterol (LDL-C) and increased risk for cardiovascular disease. In this study, we assessed a spectrum of mutations causing ADH in 3914 unrelated Czech patients with clinical diagnosis of hypercholesterolemia. Samples have been collected within the framework of the MedPed project running in the Czech Republic since 1998. So far we have found 432 patients (11...
April 5, 2017: Physiological Research
https://www.readbyqxmd.com/read/28373160/genetic-analysis-of-venous-thromboembolism-in-uk-biobank-identifies-the-zfpm2-locus-and-implicates-obesity-as-a-causal-risk-factor
#13
Derek Klarin, Connor A Emdin, Pradeep Natarajan, Mark F Conrad, Sekar Kathiresan
BACKGROUND: UK Biobank is the world's largest repository for phenotypic and genotypic information for individuals of European ancestry. Here, we leverage UK Biobank to understand the inherited basis for venous thromboembolism (VTE), a leading cause of cardiovascular mortality. METHODS AND RESULTS: We identified 3290 VTE cases and 116 868 controls through billing code-based phenotyping. We performed a genome-wide association study for VTE with ≈9 000 000 imputed single-nucleotide polymorphisms...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28365671/genetic-polymorphisms-of-the-cyp1a1-gstm1-and-gstt1-enzymes-and-their-influence-on-cardiovascular-risk-and-lipid-profile-in-people-who-live-near-a-natural-gas-plant
#14
Daria Pašalić, Natalija Marinković
The aim of this cross-sectional study was to see whether genetic polymorphisms of the enzymes CYP1A1, GSTM1, and GSTT1 are associated with higher risk of coronary artery disease (CAD) and whether they affect lipid profile in 252 subjects living near a natural gas plant, who are likely to be exposed to polycyclic aromatic hydrocarbons (PAHs). Fasting serum concentrations of biochemical parameters were determined with standard methods. Genetic polymorphisms of CYP 1A1 rs4646903, rs1048943, rs4986883, and rs1799814 were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFPL), while GSTM1 and GSTT1 deletions were detected with multiplex PCR...
March 1, 2017: Arhiv za Higijenu Rada i Toksikologiju
https://www.readbyqxmd.com/read/28356881/association-of-gsto1-and-gsto2-polymorphism-with-risk-of-end-stage-renal-disease-development-and-patient-survival
#15
Slavica Cimbaljevic, Sonja Suvakov, Marija Matic, Marija Pljesa-Ercegovac, Tatjana Pekmezovic, Tanja Radic, Vesna Coric, Tatjana Damjanovic, Nada Dimkovic, Rodoljub Markovic, Ana Savic-Radojevic, Tatjana Simic
BACKGROUND: Oxidative stress in patients with end-stage renal disease (ESRD) is associated with long-term cardiovascular complications. The cytosolic family of glutathione S-transferases (GSTs) is involved in the detoxication of various toxic compounds and antioxidant protection. GST omega class members, GSTO1 and GSTO2 possess, unlike other GSTs, dehydroascorbate reductase and deglutathionylation activities. The aim of this study was to clarify the role of genetic polymorphisms of GSTO1 (rs4925) and GSTO2 (rs156697) as risk determinants for ESRD development, as well as in the survival of these patients...
September 2016: Journal of Medical Biochemistry
https://www.readbyqxmd.com/read/28356879/relationship-between-cardiovascular-risk-score-and-traditional-and-nontraditional-cardiometabolic-parameters-in-obese-adolescent-girls
#16
Aleksandra Klisic, Nebojsa Kavaric, Ivan Soldatovic, Bojko Bjelakovic, Jelena Kotur-Stevuljevic
BACKGROUND: Since the cardiovascular (CV) risk score in the young population, children and adolescents, is underestimated, especially in developing countries such as Montenegro, where a strong interaction exists between the genetically conditioned CV risk and environmental factors, the purpose of this study was to estimate CV risk in apparently healthy adolescent girls. Moreover, we aimed to test some new, emerging CV risk factors and their interaction with the traditional ones, such as obesity...
September 2016: Journal of Medical Biochemistry
https://www.readbyqxmd.com/read/28356461/parental-family-history-of-dementia-in-relation-to-subclinical-brain-disease-and-dementia-risk
#17
Frank J Wolters, Sven J van der Lee, Peter J Koudstaal, Cornelia M van Duijn, Albert Hofman, M Kamran Ikram, Meike W Vernooij, M Arfan Ikram
OBJECTIVE: To determine the association of parental family history with risk of dementia by age at onset and sex of affected parent in a population-based cohort. METHODS: From 2000 to 2002, we assessed parental history of dementia in participants without dementia of the Rotterdam Study. We investigated associations of parental history with risk of dementia until 2015, adjusting for demographics, cardiovascular risk factors, and known genetic risk variants. Furthermore, we determined the association between parental history and markers of neurodegeneration and vascular disease on MRI...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28356445/diagnosis-treatment-and-long-term-management-of-kawasaki-disease-a-scientific-statement-for-health-professionals-from-the-american-heart-association
#18
REVIEW
Brian W McCrindle, Anne H Rowley, Jane W Newburger, Jane C Burns, Anne F Bolger, Michael Gewitz, Annette L Baker, Mary Anne Jackson, Masato Takahashi, Pinak B Shah, Tohru Kobayashi, Mei-Hwan Wu, Tsutomu T Saji, Elfriede Pahl
BACKGROUND: Kawasaki disease is an acute vasculitis of childhood that leads to coronary artery aneurysms in ≈25% of untreated cases. It has been reported worldwide and is the leading cause of acquired heart disease in children in developed countries. METHODS AND RESULTS: To revise the previous American Heart Association guidelines, a multidisciplinary writing group of experts was convened to review and appraise available evidence and practice-based opinion, as well as to provide updated recommendations for diagnosis, treatment of the acute illness, and long-term management...
April 25, 2017: Circulation
https://www.readbyqxmd.com/read/28349126/genetics-of-stroke-in-a-uk-african-ancestry-case-control-study-south-london-ethnicity-and-stroke-study
#19
Matthew Traylor, Loes Rutten-Jacobs, Charles Curtis, Hamel Patel, Gerome Breen, Stephen Newhouse, Cathryn M Lewis, Hugh S Markus
OBJECTIVE: Despite epidemiologic data showing an increased stroke incidence in African ancestry populations, genetic studies in this group have so far been limited, and there has been little characterization of the genetic contribution to stroke liability in this population, particularly for stroke subtypes. METHODS: We evaluated the evidence that genetic factors contribute to stroke and stroke subtypes in a population of 917 African and African Caribbean stroke cases and 868 matched controls from London, United Kingdom...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28324025/clinical-and-genetic-features-of-patients-with-type-2-diabetes-and-renal-glycosuria
#20
Siqian Gong, Jiandong Guo, Xueyao Han, Meng Li, Lingli Zhou, Xiaoling Cai, Yu Zhu, Yingying Luo, Simin Zhang, Xianghai Zhou, Yumin Ma, Linong Ji
Context: A sodium glucose cotransporter 2 (SGLT2) inhibitor, which increases urinary glucose excretion, was reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. SLC5A2 and HNF1A mutations are associated with renal glycosuria, but their contributions to renal glycosuria in patients with T2DM are not well understood. Objective: To assess the clinical features of patients with T2DM and renal glycosuria and those with T2DM and low urinary glucose excretion (LUGE) and identify variants in the exons of SLC5A2 and HNF1A in patients with renal glycosuria and T2DM...
May 1, 2017: Journal of Clinical Endocrinology and Metabolism
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