keyword
MENU ▼
Read by QxMD icon Read
search

Cardiovascular genetic risk testing

keyword
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#1
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28512139/a-genome-wide-association-meta-analysis-on-lipoprotein-a-concentrations-adjusted-for-apolipoprotein-a-isoforms
#2
Salome Mack, Stefan Coassin, Rico Rueedi, Noha A Yousri, Ilkka Seppälä, Christian Gieger, Sebastian Schönherr, Lukas Forer, Gertraud Erhart, Pedro Marques-Vidal, Janina Ried, Gerard Waeber, Sven Bergmann, Doreen Dähnhardt, Andrea Stöckl, Olli T Raitakari, Mika Kähönen, Annette Peters, Thomas Meitinger, Konstantin Strauch, Ludmilla Kedenko, Bernhard Paulweber, Terho Lehtimäki, Steven C Hunt, Peter Vollenweider, Claudia Lamina, Florian Kronenberg
High lipoprotein(a) [Lp(a)] concentrations are an independent risk factor for cardiovascular outcomes. Concentrations are strongly influenced by apo(a) KIV repeat isoforms. We aimed to identify genetic loci associated with Lp(a) concentrations using data from five genome-wide association studies (n=13,781). We identified 48 independent SNPs in the LPA and 1 SNP in the APOE gene region to be significantly associated with Lp(a) concentrations. We also adjusted for apo(a) isoforms to identify loci affecting Lp(a) levels independently from them, which resulted in 31 SNPs (30 in the LPA, 1 in the APOE gene region)...
May 16, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28503909/genetic-risk-score-and-cardiovascular-mortality-in-a-southern-european-population-with-coronary-artery-disease
#3
Andreia Pereira, Maria Isabel Mendonca, Ana Célia Sousa, Sofia Borges, Sónia Freitas, Eva Henriques, Mariana Rodrigues, Ana Isabel Freitas, Graça Guerra, Ilídio Ornelas, Décio Pereira, António Brehm, Roberto Palma Dos Reis
Several genetic risk scores (GRS) have been associated with cardiovascular disease; their role, however, in survival from proven coronary artery disease (CAD) have yielded conflicting results. OBJECTIVE: The objective of this study was to evaluate long-term cardiovascular mortality according to the genetic risk score in a Southern European population with CAD. METHODS: A cohort of 1464 CAD patients with angiographic proven CAD were followed up prospectively for up to 58...
May 15, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28484805/-practical-guidelines-for-genetic-testing-in-cardiovascular-diseases
#4
W Reinhard, T Trenkwalder, H Schunkert
In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management...
May 8, 2017: Herz
https://www.readbyqxmd.com/read/28481466/investigation-of-mthfr-gene-c677t-polymorphism-in-cardiac%C3%A2-syndrome-x-patients
#5
Cemre Kandaz, Burak Önal, Deniz Özen, Bülent Demir, A Gökhan Akkan, Sibel Özyazgan
BACKGROUND: Definition of Cardiac Syndrome X (CSX) refers to groups of patients with positive exercise stress test and normal epicardial coronary arteries on coronary angiography accompanied by chest pain. Although the etiology of CSX is not completely understood, there is a common consensus that its pathophysiology may be associated with endothelial dysfunction resulting in impaired coronary flow. Some polymorphisms observed on the MTHFR gene cause inactivation of the MTHFR enzyme, leading to hyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascular and cerebrovascular diseases...
May 8, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28480134/common-and-rare-genetic-markers-of-lipid-variation-in-subjects-with-type-2-diabetes-from-the-accord-clinical-trial
#6
Skylar W Marvel, Daniel M Rotroff, Michael J Wagner, John B Buse, Tammy M Havener, Howard L McLeod, Alison A Motsinger-Reif
BACKGROUND: Individuals with type 2 diabetes are at an increased risk of cardiovascular disease. Alterations in circulating lipid levels, total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL), and triglycerides (TG) are heritable risk factors for cardiovascular disease. Here we conduct a genome-wide association study (GWAS) of common and rare variants to investigate associations with baseline lipid levels in 7,844 individuals with type 2 diabetes from the ACCORD clinical trial...
2017: PeerJ
https://www.readbyqxmd.com/read/28468844/space-and-location-of-cerebral-microbleeds-cognitive-decline-and-dementia-in-the-community
#7
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/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
#8
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
#9
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
#10
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
#11
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
#12
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
#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/28369730/genetics-of-hypertrophic-cardiomyopathy-a-review-of-current-state
#14
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
#15
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
#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/28351962/pharmacogenetic-associations-of-%C3%AE-1-adrenergic-receptor-polymorphisms-with-cardiovascular-outcomes-in-the-sps3-trial-secondary-prevention-of-small-subcortical-strokes
#17
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
#18
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
#19
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
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
#20
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
keyword
keyword
109116
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"