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cardiovascular disease genetic risk assessment

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https://www.readbyqxmd.com/read/28430919/non-coding-rnas-in-cardiovascular-diseases-diagnostic-and-therapeutic-perspectives
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
March 29, 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
#11
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...
March 29, 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
#12
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
#13
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 recently reported to decrease blood glucose levels and deaths among patients with type 2 diabetes mellitus (T2DM) and established cardiovascular disease. Mutations in SLC5A2 and HNF1A 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 T2DM patients with renal glycosuria and those with low urinary glucose excretion (LUGE) and identify variants in the coding regions of SLC5A2 and HNF1A in patients with renal glycosuria and T2DM...
January 26, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28302025/the-use-of-plant-sterols-and-stanols-as-lipid-lowering-agents-in-cardiovascular-disease
#14
Jacek Rysz, Beata Franczyk, Robert Olszewski, Maciej Banach, Anna Gluba-Brzózka
BACKGROUND: The prevalence of premature atherosclerosis and cardiovascular disease (CVD) is constantly increasing worldwide. It has been proved that LDL-cholesterol (LDL-C) plays causal role in the development of coronary atherosclerosis. The fact that atherosclerosis is a chronic and progressive disease which onsets during the first three decades of life bores questions what to do to maintain LDL-C at low levels throughout life and thus to delay and/or prevent the progress this disease...
March 16, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28290798/-combined-effect-of-genetic-factors-age-and-smoking-on-the-risk-of-developing-myocardial-infarction
#15
J Osmak G, N A Matveeva, B V Titov, T R Nasibullin, O E Mustafina, R M Shakhnovich, N G Kukava, M Ya Ruda, O O Favorova
OBJECTIVE: to elaborate a complex model for myocardial infarction (MI) risk assessment considering the combined effect of genetic predisposition, age and smoking. MATERIALS AND METHODS: The study included two independent samples of ethnic Russians: 325 patients with MI and 185 individuals without history of cardiovascular diseases (controls) from the Moscow region, and 220 patients and 197 controls from the Republic of Bashkortostan. Genotyping of polymorphic loci of genes CRP (rs1130864), IFNG (rs2430561), TGFB1 (rs1982073), FGB (rs1800788) and PTGS1 (rs3842787) was performed...
December 2016: Kardiologiia
https://www.readbyqxmd.com/read/28273330/interventions-for-hereditary-haemochromatosis-an-attempted-network-meta-analysis
#16
REVIEW
Elena Buzzetti, Maria Kalafateli, Douglas Thorburn, Brian R Davidson, Emmanuel Tsochatzis, Kurinchi Selvan Gurusamy
BACKGROUND: Hereditary haemochromatosis is a genetic disorder related to proteins involved in iron transport, resulting in iron load and deposition of iron in various tissues of the body. This iron overload leads to complications including liver cirrhosis (and related complications such as liver failure and hepatocellular carcinoma), cardiac failure, cardiac arrhythmias, impotence, diabetes, arthritis, and skin pigmentation. Phlebotomy (venesection or 'blood letting') is the currently recommended treatment for hereditary haemochromatosis...
March 8, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28262545/generation-of-human-liver-chimeric-mice-with-hepatocytes-from-familial-hypercholesterolemia-induced-pluripotent-stem-cells
#17
Jiayin Yang, Yu Wang, Ting Zhou, Lai-Yung Wong, Xiao-Yu Tian, Xueyu Hong, Wing-Hon Lai, Ka-Wing Au, Rui Wei, Yuqing Liu, Lai-Hung Cheng, Guichan Liang, Zhijian Huang, Wenxia Fan, Ping Zhao, Xiwei Wang, David P Ibañez, Zhiwei Luo, Yingying Li, Xiaofen Zhong, Shuhan Chen, Dongye Wang, Li Li, Liangxue Lai, Baoming Qin, Xichen Bao, Andrew P Hutchins, Chung-Wah Siu, Yu Huang, Miguel A Esteban, Hung-Fat Tse
Familial hypercholesterolemia (FH) causes elevation of low-density lipoprotein cholesterol (LDL-C) in blood and carries an increased risk of early-onset cardiovascular disease. A caveat for exploration of new therapies for FH is the lack of adequate experimental models. We have created a comprehensive FH stem cell model with differentiated hepatocytes (iHeps) from human induced pluripotent stem cells (iPSCs), including genetically engineered iPSCs, for testing therapies for FH. We used FH iHeps to assess the effect of simvastatin and proprotein convertase subtilisin/kexin type 9 (PCSK9) antibodies on LDL-C uptake and cholesterol lowering in vitro...
March 14, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28235819/does-the-risk-of-hospitalisation-for-ischaemic-heart-disease-rise-already-before-widowhood
#18
Elina Einiö, Heta Moustgaard, Pekka Martikainen, Taina Leinonen
BACKGROUND: The death of a spouse has been shown to increase mortality from various causes, including ischaemic heart disease. It is unclear, however, whether cardiac problems are already on the rise before widowhood. METHODS: Using longitudinal register data of Finnish widows-to-be aged 65 and over at baseline (N=19 185), we assessed the risk of hospitalisation for ischaemic heart disease 18 months before and after widowhood. Hospital admissions were derived from national hospital discharge registers between 1996 and 2002...
February 24, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28195141/a-mendelian-randomization-study-of-the-effect-of-calcium-on-coronary-artery-disease-myocardial-infarction-and-their-risk-factors
#19
Lin Xu, Shi Lin Lin, C Mary Schooling
Meta-analyses of randomized controlled trials (RCTs) suggest calcium could have adverse effects on cardiovascular disease, although these findings are controversial. To clarify, we assessed whether people with genetically higher calcium had a higher risk of coronary artery disease (CAD), myocardial infarction (MI) and their risk factors. We used a two-sample Mendelian randomization study. We identified genetic variants (single nucleotide polymorphisms (SNPs)) that independently contributed to serum calcium at genome-wide significance which we applied to large extensively genotyped studies of CAD, MI, diabetes, lipids, glycaemic traits and adiposity to obtain unconfounded estimates, with body mass index (BMI) as a control outcome...
February 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28186938/an-online-questionnaire-survey-of-uk-general-practitioners-knowledge-and-management-of-familial-hypercholesterolaemia
#20
See Kwok, Jing Pang, Safwaan Adam, Gerald F Watts, Handrean Soran
OBJECTIVE: Early diagnosis and treatment of heterozygous familial hypercholesterolaemia (HeFH) is known to be associated with reduced mortality from premature coronary artery disease, but HeFH remains underdiagnosed. This survey aims to determine knowledge and current management of HeFH in general practice. SETTING: An online questionnaire was administered to general practitioners' (GPs') in the North West of England to assess their knowledge and management of HeFH...
November 9, 2016: BMJ Open
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