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Cardiovascular genetic risk testing

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https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#1
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27900865/-treatment-of-dyslipidemia-is-here-still-place-for-cetp-inhibitors
#2
Ján Murín, Miroslav Pernický, Soňa Kiňová
In the treatment of dyslipidemias about 5-6 years back a new class of drugs emerged, CETP (cholesteryl ester transfer protein)-inhibitors. Their benefit was due to an increase of HDL-cholesterol (HDL-C) serum levels. This treatment mode was supported by epidemiological and clinical studies, as people with high serum HDL-C levels suffered less from cardiovascular (CV) events. Three studies with CETP inhibitors (ILLUMINATE with torcetrapib, dal-OUTCOMES with dalcetrapib and ACCELERATE with evacetrapib) were unfortunately negative, and torcetrapib was even harmful to patients due to an increase of aldosterone serum levels...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27893808/common-polymorphisms-in-the-5-lipoxygenase-pathway-and-risk-of-incident-myocardial-infarction-a-danish-case-cohort-study
#3
Anders Gammelmark, Michael S Nielsen, Søren Lundbye-Christensen, Anne Tjønneland, Erik B Schmidt, Kim Overvad
BACKGROUND: The 5-lipoxygenase pathway (5-LOX) has been implicated in the development of cardiovascular disease and studies have suggested that genetic polymorphisms related to key enzymes in this pathway may confer risk of myocardial infarction (MI). This study investigated the association of pre-selected genetic polymorphisms in four candidate genes of 5-LOX (arachidonate 5-lipoxygenase and its activating protein (ALOX-5 and FLAP), leukotriene A4 hydroxylase (LTA4-H) and leukotriene C4 synthase (LTC4-S)) with incident MI...
2016: PloS One
https://www.readbyqxmd.com/read/27888869/latest-advances-in-chronic-pancreatitis
#4
J Enrique Domínguez-Muñoz
This article summarizes some of the recent and clinically relevant advances in chronic pancreatitis. These advances mainly concern the definition of the disease, the etiological diagnosis of idiopathic disease, the correlation between fibrosis degree and pancreatic secretion in the early stages of chronic pancreatitis, the treatment of the disease and of pain, the clinical relevance of pancreatic exocrine insufficiency, and the diagnosis of autoimmune pancreatitis. A new mechanistic definition of chronic pancreatitis has been proposed...
September 2016: Gastroenterología y Hepatología
https://www.readbyqxmd.com/read/27871254/familial-aggregation-of-albuminuria-and-arterial-hypertension-in-an-aboriginal-australian-community-and-the-contribution-of-variants-in-ace-and-tp53
#5
David L Duffy, Stephen P McDonald, Beverley Hayhurst, Sianna Panagiotopoulos, Trudy J Smith, Xing L Wang, David E Wilcken, Natalia L Duarte, John Mathews, Wendy E Hoy
BACKGROUND: Aboriginal Australians are at high risk of cardiovascular, metabolic and renal diseases, resulting in a marked reduction in life expectancy when compared to the rest of the Australian population. This is partly due to recognized environmental and lifestyle risk factors, but a contribution of genetic susceptibility is also likely. METHODS: Using results from a comprehensive survey of one community (N = 1350 examined individuals), we have tested for familial aggregation of plasma glucose, arterial blood pressure, albuminuria (measured as urinary albumin to creatinine ratio, UACR) and estimated glomerular filtration rate (eGFR), and quantified the contribution of variation at four candidate genes (ACE; TP53; ENOS3; MTHFR)...
November 21, 2016: BMC Nephrology
https://www.readbyqxmd.com/read/27866366/a-qualitative-study-of-patients-perceptions-of-the-value-of-molecular-diagnosis-for-familial-hypercholesterolemia-fh
#6
Nina Hallowell, Nicholas Jenkins, Margaret Douglas, Simon Walker, Robert Finnie, Mary Porteous, Julia Lawton
For many years, familial hypercholesterolemia (FH), an inherited disorder, has been diagnosed using phenotypic features plus family history of early onset cardiovascular disease (CVD), and has been successfully treated using statin therapy. DNA testing is now available and this has been incorporated into familial cascade screening programmes in many parts of Europe. Little is known about patients' perceptions of the value of undergoing molecular diagnosis for FH. In-depth interviews were carried out with patients (n = 38) being treated for FH who were the first in their family to undergo DNA testing for FH...
November 19, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27864399/novel-genetic-loci-associated-with-long-term-deterioration-in-blood-lipid-concentrations-and-coronary-artery-disease-in-european-adults
#7
Tibor V Varga, Azra Kurbasic, Mattias Aine, Pontus Eriksson, Ashfaq Ali, George Hindy, Stefan Gustafsson, Jian'an Luan, Dmitry Shungin, Yan Chen, Christina-Alexandra Schulz, Peter M Nilsson, Göran Hallmans, Inês Barroso, Panos Deloukas, Claudia Langenberg, Robert A Scott, Nicholas J Wareham, Lars Lind, Erik Ingelsson, Olle Melander, Marju Orho-Melander, Frida Renström, Paul W Franks
BACKGROUND: Cross-sectional genome-wide association studies have identified hundreds of loci associated with blood lipids and related cardiovascular traits, but few genetic association studies have focused on long-term changes in blood lipids. METHODS: Participants from the GLACIER Study (Nmax = 3492) were genotyped with the MetaboChip array, from which 29 387 SNPs (single nucleotide polymorphisms; replication, fine-mapping regions and wildcard SNPs for lipid traits) were extracted for association tests with 10-year change in total cholesterol (ΔTC) and triglycerides (ΔTG)...
November 17, 2016: International Journal of Epidemiology
https://www.readbyqxmd.com/read/27864383/use-of-pharmacogenetic-information-in-the-treatment-of-cardiovascular-disease
#8
REVIEW
Kevin Friede, Josephine Li, Deepak Voora
BACKGROUND: In 1964, Robert A. O'Reilly's research group identified members of a family who required remarkably high warfarin doses (up to 145 mg/day, 20 times the average dose) to achieve appropriate anticoagulation. Since this time, pharmacogenetics has become a mainstay of cardiovascular science, and genetic variants have been implicated in several fundamental classes of medications used in cardiovascular medicine. CONTENT: In this review, we discuss genetic variants that affect drug response to 3 classes of cardiovascular drugs: statins, platelet P2Y12 inhibitors, and anticoagulants...
November 18, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27822905/associations-between-homocysteine-metabolism-related-snps-and-carotid-intima-media-thickness-a-chinese-sib-pair-study
#9
Kexin Sun, Jing Song, Kuo Liu, Kai Fang, Ling Wang, Xueyin Wang, Jing Li, Xun Tang, Yiqun Wu, Xueying Qin, Tao Wu, Pei Gao, Dafang Chen, Yonghua Hu
Carotid intima-media thickness (CIMT) is a good surrogate for atherosclerosis. Hyperhomocysteinemia is an independent risk factor for cardiovascular diseases. We aim to investigate the relationships between homocysteine (Hcy) related biochemical indexes and CIMT, the associations between Hcy related SNPs and CIMT, as well as the potential gene-gene interactions. The present study recruited full siblings (186 eligible families with 424 individuals) with no history of cardiovascular events from a rural area of Beijing...
November 7, 2016: Journal of Thrombosis and Thrombolysis
https://www.readbyqxmd.com/read/27819772/triglycerides-atherosclerosis-and-cardiovascular-outcome-studies-focus-on-omega-3-fatty-acids
#10
Yehuda Handelsman, Michael D Shapiro
Despite improved atherosclerotic cardiovascular disease (ASCVD) outcomes with statin therapy, residual risk remains. Recent genetic insights provide further compelling evidence that triglycerides are in the causal pathway for the development of atherosclerosis, thereby renewing interest in targeting triglycerides to improve ASCVD outcomes. Fibrates, niacin, and omega-3 fatty acids (OM3FAs) are 3 classes of triglyceride-lowering drugs. Outcome studies with triglyceride-lowering agents have been inconsistent...
November 7, 2016: Endocrine Practice
https://www.readbyqxmd.com/read/27817745/cell-free-circulating-epigenomic-signatures-non-invasive-biomarker-for-cardiovascular-and-other-age-related-chronic-diseases
#11
Arpit Bhargava, Naveen Kumar Khare, Neha Bunkar, Koel Chaudhury, Kailash Chand Pandey, Subodh Kumar Jain, Pradyumna Kumar Mishra
The burden of cardio-vascular and other age-related non-communicable diseases are rapidly increasing worldwide. Majority of these chronic ailments are curable, if diagnosed at early stages. Candidate biomarkers of early detection are therefore essential for identification of high-risk individuals, prompt and accurate disease diagnosis, and to monitor therapeutic response. The functional significance of circulating nucleic acids that recapitulate specific disease profiles is now well established. But subtle changes in DNA sequence may not solely reflect the differentiation of gene expression patterns observed in diverse set of diseases as epigenetic phenomena play a larger role in aetiology and patho-physiology...
October 27, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27812514/association-between-genetic-variations-affecting-mean-telomere-length-and-the-prevalence-of-hypertension-and-coronary-heart-disease-in-koreans
#12
Jean Kyung Paik, Ryungwoo Kang, Yoonsu Cho, Min-Jeong Shin
In this study, we investigated whether the single nucleotide polymorphisms (SNPs) associated with telomere length (TL) were associated with the incidence of hypertension (HTN)/coronary heart disease (CHD) and cardiovascular risk factors in the Korean population. Data from 5,705 (ages 39-70) participants in the Korean Genome Epidemiology Study (rural Ansung and urban Ansan cohorts) were studied. Twelve SNPs known to be associated with telomere biology were tested for an association with HTN/CHD. As results, no significant associations were found between the selected TL-related SNPs and prevalence of HTN and CHD...
October 2016: Clinical Nutrition Research
https://www.readbyqxmd.com/read/27785095/consumption-of-nattokinase-is-associated-with-reduced-blood-pressure-and-von-willebrand-factor-a-cardiovascular-risk-marker-results-from-a-randomized-double-blind-placebo-controlled-multicenter-north-american-clinical-trial
#13
Gitte S Jensen, Miki Lenninger, Michael P Ero, Kathleen F Benson
OBJECTIVE: The objective of this study is to evaluate the effects of consumption of nattokinase on hypertension in a North American hypertensive population with associated genetic, dietary, and lifestyle factors. This is in extension of, and contrast to, previous studies on Asian populations. MATERIALS AND METHODS: A randomized, double-blind, placebo-controlled, parallel-arm clinical study was performed to evaluate nattokinase (NSK-SD), a fermented soy extract nattō from which vitamin K2 has been removed...
2016: Integrated Blood Pressure Control
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#14
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27757045/pharmacogenomics-of-statins-understanding-susceptibility-to-adverse-effects
#15
Joseph P Kitzmiller, Eduard B Mikulik, Anees M Dauki, Chandrama Murkherjee, Jasmine A Luzum
Statins are a cornerstone of the pharmacologic treatment and prevention of atherosclerotic cardiovascular disease. Atherosclerotic disease is a predominant cause of mortality and morbidity worldwide. Statins are among the most commonly prescribed classes of medications, and their prescribing indications and target patient populations have been significantly expanded in the official guidelines recently published by the American and European expert panels. Adverse effects of statin pharmacotherapy, however, result in significant cost and morbidity and can lead to nonadherence and discontinuation of therapy...
2016: Pharmacogenomics and Personalized Medicine
https://www.readbyqxmd.com/read/27755385/the-antihypertensive-mthfr-gene-polymorphism-rs17367504-g-is-a-possible-novel-protective-locus-for-preeclampsia
#16
Liv Cecilie V Thomsen, Nina S McCarthy, Phillip E Melton, Gemma Cadby, Rigmor Austgulen, Ottar K Nygård, Matthew P Johnson, Shaun Brennecke, Eric K Moses, Line Bjørge, Ann-Charlotte Iversen
OBJECTIVE: Preeclampsia is a complex heterogeneous disease commonly defined by new-onset hypertension and proteinuria in pregnancy. Women experiencing preeclampsia have increased risk for cardiovascular diseases (CVD) later in life. Preeclampsia and CVD share risk factors and pathophysiologic mechanisms, including dysregulated inflammation and raised blood pressure. Despite commonalities, little is known about the contribution of shared genes (pleiotropy) to these diseases. This study aimed to investigate whether genetic risk factors for hypertension or inflammation are pleiotropic by also being associated with preeclampsia...
January 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/27754287/br-07-2-the-linking-in-the-human-observational-and-clinical-study
#17
Peter Nilsson
A number of chronic disease conditions tend to cluster in families with an increased risk in first-degree relatives, but also an increased risk in second-degree relatives. This fact is most often referred to as the heritability (heredity) of these diseases and explained by the influence of genetic factors, or shared environment, even if the more specific details or mechanism leading to disease are not known. New methods have to be explored in screening studies and register linkage studies to define and measure consequences of a positive family history of disease...
September 2016: Journal of Hypertension
https://www.readbyqxmd.com/read/27738480/ldlr-c1725t-gene-polymorphism-frequency-in-type-2-diabetes-mellitus-patients-with-dyslipidemia
#18
Zuhal Eroglu, Ece Harman, Egemen Vardarli, Meral Kayikcioglu, Asli Tetik Vardarli
BACKGROUND: Dyslipidemia has a substantial role in the development of cardiovascular diseases in patients with type 2 diabetes mellitus (T2DM). Determining the genetic profile of T2DM patients with dyslipidemia is important in order to reduce the risk of microvascular and macrovascular complications. Low-density lipoprotein receptor (LDLR) plays a critical role in plasma lipoprotein hemostasis. LDLR mutations/polymorphisms cause changes at the lipoprotein level. The objective of this study is to determine the frequency of LDLR (rs179989) polymorphisms in Turkish T2DM patients with dyslipidemia...
November 2016: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/27724990/identification-of-fbn1-gene-mutations-in-ukrainian-marfan-syndrome-patients
#19
Rustam Zhurayev, Dorien Proost, Dmytro Zerbino, Viktor Fedorenko, Josephina A N Meester, Lut VAN Laer, Bart L Loeys
Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed...
October 11, 2016: Genetics Research
https://www.readbyqxmd.com/read/27721742/-soldier-s-heart-a-genetic-basis-for-elevated-cardiovascular-disease-risk-associated-with-post-traumatic-stress-disorder
#20
Harvey B Pollard, Chittari Shivakumar, Joshua Starr, Ofer Eidelman, David M Jacobowitz, Clifton L Dalgard, Meera Srivastava, Matthew D Wilkerson, Murray B Stein, Robert J Ursano
"Soldier's Heart," is an American Civil War term linking post-traumatic stress disorder (PTSD) with increased propensity for cardiovascular disease (CVD). We have hypothesized that there might be a quantifiable genetic basis for this linkage. To test this hypothesis we identified a comprehensive set of candidate risk genes for PTSD, and tested whether any were also independent risk genes for CVD. A functional analysis algorithm was used to identify associated signaling networks. We identified 106 PTSD studies that report one or more polymorphic variants in 87 candidate genes in 83,463 subjects and controls...
2016: Frontiers in Molecular Neuroscience
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