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cardiovascular disease genetic risk assessment

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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
#1
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/28065479/interaction-between-a-variant-of-cdkn2a-b-gene-with-lifestyle-factors-in-determining-dyslipidemia-and-estimated-cardiovascular-risk-a-step-toward-personalized-nutrition
#2
Mehrane Mehramiz, Faeze Ghasemi, Habibollah Esmaily, Maryam Tayefi, Seyed Mahdi Hassanian, Mahsa Sadeghzade, Fatemeh Sadabadi, Mohsen Moohebati, Mahmoud Reza Azarpazhooh, Seyed Mohammad Reza Parizadeh, Alireza Heidari-Bakavoli, Mohammad Safarian, Mohsen Nematy, Mahmoud Ebrahimi, Mikhail Ryzhikov, Gordon A Ferns, Majid Ghayour-Mobarhan, Amir Avan
BACKGROUND & AIMS: Several genome-wide-association-studies have identified genetic variants in a region on chromosome 9p21 that are associated with an increased risk of Cardiovascular disease (CVD) and diabetes. Here we have explored the interaction of a genetic variant of the CDKN2A/B-rs10811661 gene locus with cardiovascular risk factors and environmental-exposures (e.g., diet and physical activity) in 1165 individuals recruited from the Mashhad-Stroke and Heart-Atherosclerotic-Disorders cohort...
December 28, 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
https://www.readbyqxmd.com/read/28059143/influence-of-coronary-artery-disease-and-subclinical-atherosclerosis-related-polymorphisms-on-the-risk-of-atherosclerosis-in-rheumatoid-arthritis
#3
Raquel López-Mejías, Alfonso Corrales, Esther Vicente, Montserrat Robustillo-Villarino, Carlos González-Juanatey, Javier Llorca, Fernanda Genre, Sara Remuzgo-Martínez, Trinidad Dierssen-Sotos, José A Miranda-Filloy, Marco A Ramírez Huaranga, Trinitario Pina, Ricardo Blanco, Juan J Alegre-Sancho, Enrique Raya, Verónica Mijares, Begoña Ubilla, Iván Ferraz-Amaro, Carmen Gómez-Vaquero, Alejandro Balsa, Francisco J López-Longo, Patricia Carreira, Isidoro González-Álvaro, J Gonzalo Ocejo-Vinyals, Luis Rodríguez-Rodríguez, Benjamín Fernández-Gutiérrez, Santos Castañeda, Javier Martín, Miguel A González-Gay
A genetic component influences the development of atherosclerosis in the general population and also in rheumatoid arthritis (RA). However, genetic polymorphisms associated with atherosclerosis in the general population are not always involved in the development of cardiovascular disease (CVD) in RA. Accordingly, a study in North-American RA patients did not show the association reported in the general population of coronary artery disease with a series of relevant polymorphisms (TCF21, LPA, HHIPL1, RASD1-PEMT, MRPS6, CYP17A1-CNNM2-NT5C2, SMG6-SRR, PHACTR1, WDR12 and COL4A1-COL4A2)...
January 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28033544/complement-receptor-1-gene-polymorphisms-are-associated-with-cardiovascular-risk
#4
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...
December 20, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28007909/mendelian-randomization-estimates-of-alanine-aminotransferase-with-cardiovascular-disease-guangzhou-biobank-cohort-study
#5
Lin Xu, Chao Qiang Jiang, Tai Hing Lam, Wei Sen Zhang, Feng Zhu, Ya Li Jin, G Neil Thomas, Kar Keung Cheng, C Mary Schooling
Observational studies of the association of alanine aminotransferase (ALT) levels with ischaemic heart disease (IHD) and cardiovascular disease (CVD) risk factors are inconsistent, probably because of confounding and reverse causality. Mendelian randomization (MR) provides less confounded results. We used MR analysis to assess the associations of ALT (U/L) with IHD, diabetes and other CVD risk factors. We used instrumental variable analysis based on two single nucleotide polymorphism (SNPs) HSD17B13/MAPK10 (rs6834314) and PNPLA3/SAMM50 (rs738409) to assess the associations of ALT (U/L) with IHD, diabetes and other CVD risk factors in the Guangzhou Biobank Cohort Study (GBCS)...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27939575/receptor-interacting-protein-2-rip2-gene-polymorphisms-are-associated-with-increased-risk-of-subclinical-atherosclerosis-and-clinical-and-metabolic-parameters-the-genetics-of-atherosclerotic-disease-gea-mexican-study
#6
Rosalinda Posadas-Sánchez, Javier Ángeles-Martínez, Nonanzit Pérez-Hernández, José Manuel Rodríguez-Pérez, Fabiola López-Bautista, Teresa Villarreal-Molina, José Manuel Fragoso, Carlos Posadas-Romero, Gilberto Vargas-Alarcón
The receptor-interacting protein 2 (Rip2) is a serine/threonine kinase involved in multiple nuclear factor-κB (NFκB) activation pathways and is a key regulator of cellular lipid metabolism and cardiovascular disease. The aim of the present study was to evaluate the role of RIP2 gene polymorphisms as susceptibility markers for subclinical atherosclerosis (SA). Using an informatics analysis, four RIP2 gene polymorphisms with predicted functional effects (rs2293808, rs43133, rs431264, and rs16900627) were selected...
December 7, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27939304/pooling-and-expanding-registries-of-familial-hypercholesterolaemia-to-assess-gaps-in-care-and-improve-disease-management-and-outcomes-rationale-and-design-of-the-global-eas-familial-hypercholesterolaemia-studies-collaboration
#7
Antonio J Vallejo-Vaz, Asif Akram, Sreenivasa Rao Kondapally Seshasai, Della Cole, Gerald F Watts, G Kees Hovingh, John J P Kastelein, Pedro Mata, Frederick J Raal, Raul D Santos, Handrean Soran, Tomas Freiberger, Marianne Abifadel, Carlos A Aguilar-Salinas, Fahad Alnouri, Rodrigo Alonso, Khalid Al-Rasadi, Maciej Banach, Martin P Bogsrud, Mafalda Bourbon, Eric Bruckert, Josip Car, Richard Ceska, Pablo Corral, Olivier Descamps, Hans Dieplinger, Can T Do, Ronen Durst, Marat V Ezhov, Zlatko Fras, Dan Gaita, Isabel M Gaspar, Jaques Genest, Mariko Harada-Shiba, Lixin Jiang, Meral Kayikcioglu, Carolyn S P Lam, Gustavs Latkovskis, Ulrich Laufs, Evangelos Liberopoulos, Jie Lin, Nan Lin, Vincent Maher, Nelson Majano, A David Marais, Winfried März, Erkin Mirrakhimov, André R Miserez, Olena Mitchenko, Hapizah Nawawi, Lennart Nilsson, Børge G Nordestgaard, György Paragh, Zaneta Petrulioniene, Belma Pojskic, Željko Reiner, Amirhossein Sahebkar, Lourdes E Santos, Heribert Schunkert, Abdullah Shehab, M Naceur Slimane, Mario Stoll, Ta-Chen Su, Andrey Susekov, Myra Tilney, Brian Tomlinson, Alexandros D Tselepis, Branislav Vohnout, Elisabeth Widén, Shizuya Yamashita, Alberico L Catapano, Kausik K Ray
BACKGROUND: The potential for global collaborations to better inform public health policy regarding major non-communicable diseases has been successfully demonstrated by several large-scale international consortia. However, the true public health impact of familial hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide...
December 2016: Atherosclerosis. Supplements
https://www.readbyqxmd.com/read/27935899/-algorithm-for-selection-of-individual-therapy-with-clopidogrel-in-vascular-surgical-practice
#8
A I Shevela, A A Slepukhina, E M Zelenskaya, T A Seredina, G I Lifshits
For treatment of patients with diseases of lower limb arteries and prevention of cardiovascular complications in high-risk patients (those with diabetes mellitus, arterial hypertension, dyslipidemia, obesity) permanent antiplatelet therapy is indicated. A problem is variable individual sensitivity to therapeutic agents. For antiplatelet therapy in patients with atherosclerosis of lower limb arteries there has been obtained an evidence-supported base concerning efficacy of long-term administration of clopidogrel preparations, unlike patients with acute coronary syndrome, for whom there has been accumulated an evidence-confirmed base of administering clopidogrel preparations, as well as ticagrelor and prasugrel in various clinical situations...
2016: Angiologii︠a︡ i Sosudistai︠a︡ Khirurgii︠a︡, Angiology and Vascular Surgery
https://www.readbyqxmd.com/read/27914500/effect-of-l-arginine-asymmetric-dimethylarginine-and-symmetric-dimethylarginine-on-ischemic-heart-disease-risk-a-mendelian-randomization-study
#9
Shiu Lun Au Yeung, Shi Lin Lin, Hung San Hugh Simon Lam, Catherine Mary Schooling
BACKGROUND: l-arginine is a commonly consumed dietary conditional essential amino acid found in food items and supplements, which is closely related to asymmetric dimethylarginine (ADMA) and symmetric dimethylarginine (SDMA). l-arginine is thought to increase nitric oxide and be cardioprotective, whereas ADMA and SDMA may inhibit nitric oxide synthesis and increase cardiovascular disease risk. Unexpectedly, l-arginine increased mortality in a small trial. To clarify the effects of these potential targets of intervention, we assessed the risk of ischemic heart disease (IHD) by genetically determined l-arginine, ADMA, and SDMA...
December 2016: American Heart Journal
https://www.readbyqxmd.com/read/27891353/association-of-c-reactive-protein-rs1205-gene-polymorphism-with-susceptibility-to-psoriasis-in-south-indian-tamils
#10
Anjana Sudhesan, Medha Rajappa, Laxmisha Chandrashekar, Palghat Hariharan Ananthanarayanan, Devinder Mohan Thappa, Santhosh Satheesh, Adithan Chandrasekaran, Panneer Devaraju
INTRODUCTION: Psoriasis is a multi-factorial heritable T-helper Th-1/Th-17 mediated inflammatory disease, affecting the skin. It is associated with co-morbidities such as Cardiovascular Disease (CVD). C-Reactive Protein (CRP) is a good inflammatory marker. CRP rs1205 polymorphism is associated with circulating plasma CRP levels. Although there is association between the rs1205 Single Nucleotide Polymorphism (SNP) and CVD, there are no prior reports regarding the association of CRP rs1205 SNP with psoriasis susceptibility...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27882376/plasma-levels-of-the-anti-coagulation-protein-c-and-the-risk-of-ischaemic-heart-disease-a-mendelian-randomisation-study
#11
C Mary Schooling, Yi Zhong
Protein C is an environmentally modifiable anticoagulant, which protects against venous thrombosis, whether it also protects against ischaemic heart disease is unclear, based on observational studies and relatively small genetic studies. It was our study aim to clarify the role of protein C in ischaemic heart disease the risk of coronary artery disease/myocardial infarction (CAD/MI) was assessed according to genetically predicted protein C in very large studies. Associations with lipids and diabetes were similarly assessed to rule out effects via traditional cardiovascular disease risk factors...
November 24, 2016: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/27856457/carriers-of-the-pcsk9-r46l-variant-are-characterized-by-an-antiatherogenic-lipoprotein-profile-assessed-by-nuclear-magnetic-resonance-spectroscopy-brief-report
#12
Rutger Verbeek, Marjorie Boyer, S Matthijs Boekholdt, G Kees Hovingh, John J P Kastelein, Nicholas Wareham, Kay-Tee Khaw, Benoit J Arsenault
OBJECTIVE: Carriers of the PCSK9 (proprotein convertase subtilisin/kexin 9) R46L genetic variant (rs11591147) are characterized by low levels of low-density lipoprotein cholesterol and a decreased risk of cardiovascular disease. We studied the impact of the R46L variant on lipoprotein size and composition. APPROACH AND RESULTS: Lipoprotein size and composition were measured by nuclear magnetic resonance spectroscopy in 2373 participants of the EPIC (European Prospective Investigation into Cancer and Nutrition)-Norfolk study...
January 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/27835692/uric-acid-as-a-marker-of-mortality-and-morbidity-in-fabry-disease
#13
Daniel Rob, Josef Marek, Gabriela Dostálová, Lubor Goláň, Aleš Linhart
BACKGROUND: Serum uric acid (UA) elevation is common in patients with cardiovascular, renal and metabolic diseases. However, no study to date has analysed the role of UA in Fabry disease (FD). OBJECTIVES: To evaluate the association between serum UA levels and mortality and morbidity in FD. MATERIALS AND METHODS: We conducted a post-hoc analysis of a prospectively followed-up cohort of 124 patients with genetically proven FD. Serum UA levels were acquired at baseline; clinical events and mortality were assessed during regular visits every 6 to 12 months...
2016: PloS One
https://www.readbyqxmd.com/read/27833755/measurement-of-overweight-and-obesity-an-urban-slum-setting-in-sub-saharan-africa-a-comparison-of-four-anthropometric-indices
#14
Tilahun Nigatu Haregu, Samuel Oti, Thaddaeus Egondi, Catherine Kyobutungi
BACKGROUND: As a result of both genetic and environmental factors, the body composition and topography of African populations are presumed to be different from western populations. Accordingly, globally accepted anthropometric markers may perform differently in African populations. In the era of rapid emergence of cardio-vascular diseases in sub-Saharan Africa, evidence about the performance of these markers in African settings is essential. The aim of this study was to investigate the inter-relationships among the four main anthropometric indices in measuring overweight and obesity in an urban poor African setting...
2016: BMC Obesity
https://www.readbyqxmd.com/read/27820819/premature-adult-death-in-individuals-born-preterm-a-sibling-comparison-in-a-prospective-nationwide-follow-up-study
#15
Kari R Risnes, Kristine Pape, Johan H Bjørngaard, Dag Moster, Michael B Bracken, Pal R Romundstad
BACKGROUND: Close to one in ten individuals worldwide is born preterm, and it is important to understand patterns of long-term health and mortality in this group. This study assesses the relationship between gestational age at birth and early adult mortality both in a nationwide population and within sibships. The study adds to existing knowledge by addressing selected causes of death and by assessing the role of genetic and environmental factors shared by siblings. METHODS: Study population was all Norwegian men and women born from 1967 to 1997 followed using nation-wide registry linkage for mortality through 2011 when they were between 15 and 45 years of age...
2016: PloS One
https://www.readbyqxmd.com/read/27811210/a-novel-protein-glycan-derived-inflammation-biomarker-independently-predicts-cardiovascular-disease-and-modifies-the-association-of-hdl-subclasses-with-mortality
#16
Robert W McGarrah, Jacob P Kelly, Damian M Craig, Carol Haynes, Ryan C Jessee, Kim M Huffman, William E Kraus, Svati H Shah
BACKGROUND: Evidence suggests that systemic inflammation may adversely impact HDL function. In this study we sought to evaluate the independent and incremental predictive performance of GlycA-a novel serum inflammatory biomarker that is an aggregate measure of enzymatically glycosylated acute phase proteins-and HDL subclasses on adverse events in a retrospective observational study of a secondary prevention population and to understand a priori defined potential interactions between GlycA and HDL subclasses...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/27810779/intravenous-transfusion-of-endothelial-progenitor-cells-that-overexpress-vitamin-d-receptor-inhibits-atherosclerosis-in-apoe-deficient-mice
#17
Wei Xiang, Zhi-Lan Hu, Xiao-Jie He, Xi-Qiang Dang
Endothelial progenitor cells (EPCs) are widely used for angiogenic therapies, as well as predictive biomarkers to assess cardiovascular disease risk. However, it is unknown that whether overexpressed vitamin D receptor (VDR) in EPCs could help EPCs counteracting atherosclerotic risks. Here, we study intravenous transplantation of genetically modified EPCs over-expressing VDR in regulating endothelial dysfunction and spontaneously arising atherosclerotic plaques of ApoE-deficient mice. Firstly, we found that over-expression of VDR in EPCs could reduce atherosclerotic plaque formation in transplanted ApoE-/- mice...
December 2016: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/27784735/homozygous-familial-hypercholesterolemia-in-spain-prevalence-and-phenotype-genotype-relationship
#18
Rosa M Sánchez-Hernández, Fernando Civeira, Marianne Stef, Sofía Perez-Calahorra, Fátima Almagro, Nuria Plana, Francisco J Novoa, Pedro Sáenz-Aranzubía, Daniel Mosquera, Cristina Soler, Francisco J Fuentes, Yeray Brito-Casillas, Jose T Real, Francisco Blanco-Vaca, Juan F Ascaso, Miguel Pocovi
BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease. HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1). No epidemiological studies have assessed HoFH prevalence or the clinical and molecular characteristics of this condition...
December 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27758878/correlation-of-angiotensin-i-converting-enzyme-gene-insertion-deletion-polymorphism-with-rheumatic-heart-disease-a-meta-analysis
#19
Yulong Tian, Zhongchun Ge, Yuliang Xing, Yan Sun, Jie Ying
Rheumatic heart disease (RHD) is a serious cardiovascular disorder worldwide. Several articles have reported the effect of angiotensin I-converting enzyme gene insertion/deletion (ACE I/D) polymorphism in RHD risk. However, the results still remain inconsistent. The objective of this study was to assess more precise estimations of the relationship between ACE I/D variant and RHD susceptibility. Relevant case-control studies published between January 2000 and 2016 were searched in the electronic databases. The odds ratio (OR) with its 95% confidence interval (CI) was employed to calculate the strength of the effect...
October 10, 2016: Bioscience Reports
https://www.readbyqxmd.com/read/27757935/impact-of-salt-intake-on-the-pathogenesis-and-treatment-of-hypertension
#20
Petra Rust, Cem Ekmekcioglu
Excessive dietary salt (sodium chloride) intake is associated with an increased risk for hypertension, which in turn is especially a major risk factor for stroke and other cardiovascular pathologies, but also kidney diseases. Besides, high salt intake or preference for salty food is discussed to be positive associated with stomach cancer, and according to recent studies probably also obesity risk. On the other hand a reduction of dietary salt intake leads to a considerable reduction in blood pressure, especially in hypertensive patients but to a lesser extent also in normotensives as several meta-analyses of interventional studies have shown...
October 19, 2016: Advances in Experimental Medicine and Biology
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