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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/28439531/genome-and-cd4-t-cell-methylome-wide-association-study-of-circulating-trimethylamine-n-oxide-in-the-genetics-of-lipid-lowering-drugs-and-diet-network-goldn
#1
Stella Aslibekyan, Marguerite R Irvin, Bertha A Hidalgo, Rodney T Perry, Elias J Jeyarajah, Erwin Garcia, Irina Shalaurova, Paul N Hopkins, Michael A Province, Hemant K Tiwari, Jose M Ordovas, Devin M Absher, Donna K Arnett
BACKGROUND: Trimethylamine-N-oxide (TMAO), an atherogenic metabolite species, has emerged as a possible new risk factor for cardiovascular disease. Animal studies have shown that circulating TMAO levels are regulated by genetic and environmental factors. However, large-scale human studies have failed to replicate the observed genetic associations, and epigenetic factors such as DNA methylation have never been examined in relation to TMAO levels. METHODS AND RESULTS: We used data from the family-based Genetics of Lipid Lowering Drugs and Diet Network (GOLDN) to investigate the heritable determinants of plasma TMAO in humans...
June 2017: Journal of Nutrition & Intermediary Metabolism
https://www.readbyqxmd.com/read/28419274/extreme-high-high-density-lipoprotein-cholesterol-is-paradoxically-associated-with-high-mortality-in-men-and-women-two-prospective-cohort-studies
#2
Christian M Madsen, Anette Varbo, Børge G Nordestgaard
Aims: High-density lipoprotein (HDL) cholesterol concentrations are inversely associated with cardiovascular disease and mortality across a range of concentrations, but genetic evidence suggest that extreme high concentrations may paradoxically lead to more cardiovascular disease. We tested the hypothesis that extreme high concentrations of HDL cholesterol are associated with high all-cause mortality in men and women. Methods and results: A total of 52 268 men and 64 240 women were included from the two prospective population-based studies, the Copenhagen City Heart Study and the Copenhagen General Population Study...
April 12, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28408189/genetic-effects-on-the-correlation-structure-of%C3%A2-cvd-risk-factors-exome-wide-data-from-a-ghanaian-population
#3
REVIEW
Nuri Kodaman, Rafal S Sobota, Folkert W Asselbergs, Matthew T Oetjens, Jason H Moore, Nancy J Brown, Melinda C Aldrich, Scott M Williams
Plasma concentration of plasminogen activator inhibitor-1 (PAI-1) is highly correlated with several cardiovascular disease (CVD) risk factors. It also plays a direct role in CVD, including myocardial infarction and stroke, by impeding the dissolution of thrombi in the blood. Insofar as PAI-1 links CVD's risk factors to its endpoints, genetic variants modulating the relationship between PAI-1 and risk factors may be of particular clinical and biological interest. The high heritability of PAI-1, which has not been explained by genetic association studies, may also, in large part, be due to this relationship with CVD risk factors...
April 10, 2017: Global Heart
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#4
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28377187/gene-variants-in-responsiveness-to-clopidogrel-have-no-impact-on-clinical-outcomes-in-chinese-patients-undergoing-percutaneous-coronary-intervention-a-multicenter-study
#5
Chenze Li, Lina Zhang, Haoran Wang, Sha Li, Yan Zhang, Ling You, Yang Sun, Dong Wang, Jun Yang, Yinghua Cui, Yanyan Cao, Xiaoqing Shen, Yan Wang, Wei Cui, Jiangtao Yan, Hesong Zeng, Xiaomei Guo, Jianjun Li, Dao Wen Wang
BACKGROUND: Gene variants contribute to variability in individual responsiveness to clopidogrel and influence cardiovascular outcomes in Caucasian patients with acute coronary syndrome (ACS). However, limited data is available in Asian populations. METHODS: We resequenced 14 genes in metabolizing and activity pathway of clopidogrel in 138 patients with ACS and prospectively assessed the modulating effects of 13 variants possibly related to clopidogrel efficacy on one-year cardiovascular event occurrence in 5820 ACS patients after percutaneous coronary intervention (PCI)...
March 8, 2017: International Journal of Cardiology
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/28369730/genetics-of-hypertrophic-cardiomyopathy-a-review-of-current-state
#7
REVIEW
María Sabater-Molina, Inmaculada Pérez-Sánchez, Juan Pedro Hernández Del Rincón, Juan R Gimeno
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease. HCM is a highly complex and heterogeneous disease regarding not only the number of associated mutations, but also the severity of phenotype, symptom burden, and the risk of complications, like heart failure and sudden death. The penetrance is incomplete and it is age and gender dependent. It is accepted as a disease of the sarcomere. Sixty percent of HCM cases carry mutations in one of eight sarcomere protein genes, mainly non-sense MYBPC3 and missense MYH7 variants...
April 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28361054/validation-and-utilization-of-a-clinical-next-generation-sequencing-panel-for-selected-cardiovascular-disorders
#8
Patrícia B S Celestino-Soper, Hongyu Gao, Ty C Lynnes, Hai Lin, Yunlong Liu, Katherine G Spoonamore, Peng-Sheng Chen, Matteo Vatta
The development of high-throughput technologies such as next-generation sequencing (NGS) has allowed for thousands of DNA loci to be interrogated simultaneously in a fast and economical method for the detection of clinically deleterious variants. Whenever a clinical diagnosis is known, a targeted NGS approach involving the use of disease-specific gene panels can be employed. This approach is often valuable as it allows for a more specific and clinically relevant interpretation of results. Here, we describe the customization, validation, and utilization of a commercially available targeted enrichment platform for the scalability of clinical diagnostic cardiovascular genetic tests, including the design of the gene panels, the technical parameters for the quality assurance and quality control, the customization of the bioinformatics pipeline, and the post-bioinformatics analysis procedures...
2017: Frontiers in Cardiovascular Medicine
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/28351962/pharmacogenetic-associations-of-%C3%AE-1-adrenergic-receptor-polymorphisms-with-cardiovascular-outcomes-in-the-sps3-trial-secondary-prevention-of-small-subcortical-strokes
#10
Oyunbileg Magvanjav, Caitrin W McDonough, Yan Gong, Leslie A McClure, Robert L Talbert, Richard B Horenstein, Alan R Shuldiner, Oscar R Benavente, Braxton D Mitchell, Julie A Johnson
BACKGROUND AND PURPOSE: Functional polymorphisms (Ser49Gly and Arg389Gly) in ADRB1 have been associated with cardiovascular and β-blocker response outcomes. Herein we examined associations of these polymorphisms with major adverse cardiovascular events (MACE), with and without stratification by β-blocker treatment in patients with a history of stroke. METHODS: Nine hundred and twenty-six participants of the SPS3 trial's (Secondary Prevention of Small Subcortical Strokes) genetic substudy with hypertension were included...
May 2017: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/28350619/genetic-determinants-of-essential-hypertension-in-the-population-of-tatars-from-russia
#11
Yanina Timasheva, Timur Nasibullin, Elvira Imaeva, Vera Erdman, Ilsiyar Tuktarova, Olga Mustafina
OBJECTIVE: Systemic inflammation and impaired function of endothelium play an important role in the development of hypertension. Our study aimed to analyze an association between essential hypertension and polymorphic markers in candidate genes in the group of 530 Tatars from the Republic of Bashkortostan, Russia. METHODS: The study group consisted of 216 male patients with essential hypertension (mean age 48.92 ± 8.8 years) and 314 healthy individuals of corresponding sex and age without history of cardiovascular disease...
May 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28324025/clinical-and-genetic-features-of-patients-with-type-2-diabetes-and-renal-glycosuria
#12
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/28323832/age-related-cognitive-decline-and-associations-with-sex-education-and-apolipoprotein-e-genotype-across-ethnocultural-groups-and-geographic-regions-a-collaborative-cohort-study
#13
Darren M Lipnicki, John D Crawford, Rajib Dutta, Anbupalam Thalamuthu, Nicole A Kochan, Gavin Andrews, M Fernanda Lima-Costa, Erico Castro-Costa, Carol Brayne, Fiona E Matthews, Blossom C M Stephan, Richard B Lipton, Mindy J Katz, Karen Ritchie, Jacqueline Scali, Marie-Laure Ancelin, Nikolaos Scarmeas, Mary Yannakoulia, Efthimios Dardiotis, Linda C W Lam, Candy H Y Wong, Ada W T Fung, Antonio Guaita, Roberta Vaccaro, Annalisa Davin, Ki Woong Kim, Ji Won Han, Tae Hui Kim, Kaarin J Anstey, Nicolas Cherbuin, Peter Butterworth, Marcia Scazufca, Shuzo Kumagai, Sanmei Chen, Kenji Narazaki, Tze Pin Ng, Qi Gao, Simone Reppermund, Henry Brodaty, Antonio Lobo, Raúl Lopez-Anton, Javier Santabárbara, Perminder S Sachdev
BACKGROUND: The prevalence of dementia varies around the world, potentially contributed to by international differences in rates of age-related cognitive decline. Our primary goal was to investigate how rates of age-related decline in cognitive test performance varied among international cohort studies of cognitive aging. We also determined the extent to which sex, educational attainment, and apolipoprotein E ε4 allele (APOE*4) carrier status were associated with decline. METHODS AND FINDINGS: We harmonized longitudinal data for 14 cohorts from 12 countries (Australia, Brazil, France, Greece, Hong Kong, Italy, Japan, Singapore, Spain, South Korea, United Kingdom, United States), for a total of 42,170 individuals aged 54-105 y (42% male), including 3...
March 2017: PLoS Medicine
https://www.readbyqxmd.com/read/28298470/genetically-driven-hyperglycemia-increases-risk-of-coronary-artery-disease-separately-from-type-2-diabetes
#14
Jordi Merino, Aaron Leong, Daniel C Posner, Bianca Porneala, Lluís Masana, Josée Dupuis, Jose C Florez
OBJECTIVE: This study tested the hypothesis that genetically raised hyperglycemia increases coronary artery disease (CAD) risk separately from the risk conferred by type 2 diabetes as a whole. RESEARCH DESIGN AND METHODS: We conducted a Mendelian randomization (MR) analysis using summary-level statistics from the largest published meta-analyses of genome-wide association studies (GWAS) for fasting glucose (FG) (n = 133,010 participants free of diabetes) and CAD (n = 63,746 case subjects and 130,681 control subjects) of predominantly European ancestry...
March 15, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28294512/hfe-mutations-and-iron-in-hemodialysis-patients
#15
Luca Valenti, Serena Pelusi
INTRODUCTION: in chronic hemodialysis patients, a disruption in iron metabolism ranging from absolute to functional deficiency, with compartmentalization of this metal into macrophages, is often observed. Chronic inflammation indeed often causes an upregulation of the iron hormone hepcidin, thereby reducing iron absorption and availability to the erythron. METHODS: we systematically reviewed the literature on the role of genetic risk factors on iron metabolism in hemodialysis...
March 15, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/28290798/-combined-effect-of-genetic-factors-age-and-smoking-on-the-risk-of-developing-myocardial-infarction
#16
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/28281736/optimal-antiplatelet-pharmacotherapy-guided-by-bedside-genetic-or-functional-testing-in-elective-pci-patients-a-pilot-study-onside-test-pilot
#17
Lukasz Koltowski, Mariusz Tomaniak, Daniel Aradi, Zenon Huczek, Krzysztof J Filipiak, Janusz Kochman, Sylwia Gajda, Paweł Balsam, Grzegorz Opolski
BACKGROUND: Dual antiplatelet therapy is recommended after elective percutaneous coronary intervention (PCI) in stable coronary artery disease (SCAD) patients; however, still one-third of patients do not obtain adequate platelet inhibition that may result in increased cardiovascular risk. The aim of the ONSIDE TEST study is to evaluate the clinical impact of point-of-care genotyping- and platelet function-based personalized dual antiplatelet strategies in SCAD individuals undergoing PCI...
March 10, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/28262545/generation-of-human-liver-chimeric-mice-with-hepatocytes-from-familial-hypercholesterolemia-induced-pluripotent-stem-cells
#18
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/28237318/strokes-are-possible-complications-of-cannabinoids-use
#19
REVIEW
Valérie Wolff, Emilie Jouanjus
It is critically important to identify all factors that may play a role in the recent increase of the incidence of stroke among the young population. Considering the worldwide use of cannabinoids (cannabis and synthetic cannabinoids), the recent legalization of their consumption in some countries, and their supposed involvement in cardiovascular events, we evaluated their role in the occurrence of neurovascular complications among the young. Ninety-eight patients were described in the literature as having a cannabinoids-related stroke (85 after cannabis use and 13 after synthetic cannabinoids)...
February 23, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28209224/systematic-evaluation-of-pleiotropy-identifies-6-further-loci-associated-with%C3%A2-coronary-artery%C3%A2-disease
#20
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
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