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cardiovascular disease genetic risk assessment

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
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
Ramon Bossardi Ramos, Vitor Fabris, Sheila Bunecker Lecke, Maria Augusta Maturana, Poli Mara Spritzer
BACKGROUND: Genetic studies to date have not provided satisfactory evidence regarding risk polymorphisms for cardiovascular disease (CVD). Conversely, epigenetic mechanisms, including DNA methylation, seem to influence the risk of CVD and related conditions. Because postmenopausal women experience an increase in CVD, we set out to determine whether global DNA methylation was associated with cardiovascular risk in this population. METHODS: In this cross sectional study carried out in a university hospital, 90 postmenopausal women without prior CVD diagnosis (55...
October 10, 2016: BMC Medical Genetics
Çağrı Yayla, Kaan Okyay, Akın Yılmaz, Asife Şahinarslan, Atiye Seda Yar Sağlam, Azmi Eyiol, Hasan Ata Bolayır, Burak Sezenöz, Sevda Menevşe, Atiye Çengel
BACKGROUND AND OBJECTIVES: Genetic predisposition is an important risk factor for coronary artery disease (CAD). In this study, we aimed to evaluate the impact of rs10757274 and rs2383206 polymorphisms in chromosome 9p21 on presence and severity of CAD in a Turkish population. SUBJECTS AND METHODS: A total of 646 patients who underwent coronary angiography were included in this study. Coronary vessel score and Gensini score were calculated to assess the angiographic severity of CAD...
September 2016: Korean Circulation Journal
Samira Kalayi Nia, Shayan Ziaee, Mohammad Ali Boroumand, Maryam Sotudeh Anvari, Leyla Pourgholi, Arash Jalali
BACKGROUND: The association between genetic variations of vascular endothelial growth factor (VEGF) gene and the risk for atherosclerosis has been hypothesized. We aimed to assess the relationship between rs2010963 (+405 C/G) polymorphism and presence, severity, and outcome of coronary artery disease (CAD) in an Iranian cohort. METHODS: Genotyping of VEGF rs2010963 polymorphism was performed on 520 individuals, comprising 347 patients with documented coronary artery disease based on angiography report and 173 individuals with normal coronary arteries, using the TaqMan real-time PCR method...
October 5, 2016: Journal of Clinical Laboratory Analysis
Iván Ferraz-Amaro, Robert Winchester, Peter K Gregersen, Richard J Reynolds, Mary Chester Wasko, Anette Oeser, Cecilia P Chung, C Michael Stein, Jon T Giles, Joan M Bathon
OBJECTIVE: Coronary artery disease (CAD) in the general population is characterized by an increased frequency of particular susceptibility single nucleotide polymorphisms (SNPs). Since CAD is increased in rheumatoid arthritis (RA), we sought to determine whether the frequency of these SNPs are increased in RA patients with CAD, hypothesizing that RA could enhance CAD risk by acting through established genetic pathways predisposing to CAD. METHODS: CAD was assessed by coronary artery calcification (CAC) using computed-tomography in 561 patients with RA...
October 1, 2016: Arthritis & Rheumatology
Ashley Rhodes, Lindsey Rosman, John Cahill, Jodie Ingles, Brittney Murray, Crystal Tichnell, Cynthia A James, Samuel F Sears
Genetic assessment for inherited cardiovascular disease (CVD) is increasingly available, due in part to rapid innovations in genetic sequencing technologies. While genetic testing is aimed at reducing uncertainty, it also produces awareness of potential medical conditions and can leave patients feeling uncertain about their risk, especially if there are ambiguous results. This uncertainty can produce psychological distress for patients and their families undergoing the assessment process. Additionally, patients may experience psychological distress related to living with inherited CVD...
September 30, 2016: Journal of Genetic Counseling
Kah Lin Khoo, Michael M Page, Yin Mei Liew, Joep C Defesche, Gerald F Watts
BACKGROUND: Familial hypercholesterolemia (FH) leads to premature coronary artery disease and aortic stenosis, with undertreated severe forms causing death at a young age. Lipoprotein apheresis (LA) is often required for lowering low-density lipoprotein cholesterol levels in severe FH. OBJECTIVES: The objective of this study was to present the first experiences with LA in Malaysia, between 2004 and 2014. METHODS: We retrospectively collected data from patient records to assess the effectiveness, adverse effects, patient quality of life, and costs associated with an LA service for genetically confirmed homozygous and heterozygous FH...
September 2016: Journal of Clinical Lipidology
Magnus Jörntén-Karlsson, Stéphane Pintat, Michael Molloy-Bland, Staffan Berg, Matti Ahlqvist
Poor adherence to statins increases cardiovascular disease risk. We systematically identified 32 controlled studies that assessed patient-centered interventions designed to improve statin adherence. The limited number of studies and variation in study characteristics precluded strict quality criteria or meta-analysis. Cognitive education or behavioural counselling delivered face-to-face multiple times consistently improved statin adherence compared with control groups (7/8 and 3/3 studies, respectively). None of four studies using medication reminders and/or adherence feedback alone reported significantly improved statin adherence...
October 2016: Drugs
Nicholas J Viney, Julian C van Capelleveen, Richard S Geary, Shuting Xia, Joseph A Tami, Rosie Z Yu, Santica M Marcovina, Steven G Hughes, Mark J Graham, Rosanne M Crooke, Stanley T Crooke, Joseph L Witztum, Erik S Stroes, Sotirios Tsimikas
BACKGROUND: Elevated lipoprotein(a) (Lp[a]) is a highly prevalent (around 20% of people) genetic risk factor for cardiovascular disease and calcific aortic valve stenosis, but no approved specific therapy exists to substantially lower Lp(a) concentrations. We aimed to assess the efficacy, safety, and tolerability of two unique antisense oligonucleotides designed to lower Lp(a) concentrations. METHODS: We did two randomised, double-blind, placebo-controlled trials...
September 21, 2016: Lancet
Paula Boaventura, Cecília Durães, Adélia Mendes, Natália Rios Costa, Inês Chora, Sara Ferreira, Emanuel Araújo, Pedro Lopes, Gilberto Rosa, Pedro Marques, Paulo Bettencourt, Inês Oliveira, Francisco Costa, Isabel Ramos, Maria José Teles, João Tiago Guimarães, Manuel Sobrinho-Simões, Paula Soares
Head and neck cancers, and cardiovascular disease have been described as late effects of low dose radiation (LDR) exposure, namely in tinea capitis cohorts. In addition to radiation dose, gender and younger age at exposure, the genetic background might be involved in the susceptibility to LDR late effects. The -174 G>C (rs1800795) SNP in IL6 has been associated with cancer and cardiovascular disease, nevertheless this association is still controversial. We assessed the association of the IL6-174 G>C SNP with LDR effects such as thyroid carcinoma, basal cell carcinoma and carotid atherosclerosis in the Portuguese tinea capitis cohort...
2016: PloS One
Lazaros Konstantinidis, Yan Guex-Crosier
PURPOSE OF REVIEW: Hypertension is the primary risk factor for cardiovascular disease and mortality that consists a major public health issue worldwide. Hypertension triggers a series of pathophysiological ocular modifications affecting significantly the retinal, choroidal, and optic nerve circulations that result in a range of ocular effects.The retina is the only place in the body where microvasculature can be directly inspected, providing valuable information on hypertension related systemic risks...
November 2016: Current Opinion in Ophthalmology
M Iaresko, E Kolesnikova
The study of genetic dependency of developing cardiovascular diseases and factors of endothelial dysfunction in menopausal women is extremely important in today's world. The aim of the study was to assess the correlation of polymorphic marker -634G/С (rs2010963) of the VEGF-А gene and formation of AH combined with obesity in premenopausal women. The data of 115 women with stage II of AH, grade 1-2 and obesity I-II gr., aged 45 to 60 years. All patients were divided into groups according to menopausal status: 45 women without menopause (premenopausal), and who were registered with irregular menstrual cycle for 3-11 months, and 50 menopausal women whose period is less than 3 years...
July 2016: Georgian Medical News
S Sayols-Baixeras, I Subirana, C Lluis-Ganella, F Civeira, J Roquer, A N Do, D Absher, D Muñoz, C Soriano-Tárraga, J Jiménez-Conde, J Ordovas, M Senti, S Aslibekyan, J Marrugat, D K Arnett, R Elosua
Lipid traits (total, low-density and high-density lipoprotein cholesterol, and triglycerides) are risk factors for cardiovascular disease. DNA methylation is an inherited but also modifiable epigenetic mark that has been related to cardiovascular risk factors. Our aim was to identify loci showing differential DNA methylation related to serum lipid levels. Blood DNA methylation was assessed using the Illumina HumanMethylation450 BeadChip. A two-stage epigenome-wide association study was performed, with a discovery sample in the REGICOR study (n=645) and validation in the Framingham Offspring Study (n=2,542)...
September 15, 2016: Human Molecular Genetics
Eugene Han, Myoung Soo Kim, Yu Seun Kim, Eun Seok Kang
The success rate of organ transplantation has been increasing with advances in surgical and pharmacological techniques. However, the number of solid organ transplant recipients who require metabolic disease management is also growing. Post-transplant diabetes mellitus (PTDM) is a common complication after solid organ transplantation and is associated with risks of graft loss, cardiovascular morbidity, and mortality. Other risk factors for PTDM include older age, genetic background, obesity, hepatitis C virus infection, hypomagnesemia, and use of immunosuppressant agents (corticosteroids, calcineurin inhibitors, and mammalian target of rapamycin inhibitor)...
October 2016: Metabolism: Clinical and Experimental
Amrit Bajrangee, Nicola Ryan, Ciara Vangjeli, Marian Brennan, Dermot Cox, Denis C Shields, Desmond Fitzgerald, Andrew Maree
BACKGROUND: Serotonin (5-HT) induces platelet aggregation by activating its 5-HT2A receptor. Platelet uptake is mediated by the 5-HT transporter (5-HTT). A common 5-HTT promoter (5-HTTLPR) splice variant results in long (L) and short (S) alleles. 5-HTTLPR genotype has been associated with increased platelet activation and risk of MI. Variation within HTR2A gene (C1354T) that encodes the 5-HT2A receptor has also been associated with enhanced platelet aggregation. We hypothesised that 5-HTT and/or HTR2A variation may influence platelet response to aspirin in patients with stable CAD...
October 2016: Thrombosis Research
Ning Ding, Xin Wang, Marc G Weisskopf, David Sparrow, Joel Schwartz, Howard Hu, Sung Kyun Park
BACKGROUND: Cumulative exposure to lead is associated with cardiovascular outcomes. Polymorphisms in the δ-aminolevulinic acid dehydratase (ALAD), hemochromatosis (HFE), heme oxygenase-1 (HMOX1), vitamin D receptor (VDR), glutathione S-transferase (GST) supergene family (GSTP1, GSTT1, GSTM1), apolipoprotein E (APOE),angiotensin II receptor-1 (AGTR1) and angiotensinogen (AGT) genes, are believed to alter toxicokinetics and/or toxicodynamics of lead. OBJECTIVES: We assessed possible effect modification by genetic polymorphisms in ALAD, HFE, HMOX1, VDR, GSTP1, GSTT1, GSTM1, APOE, AGTR1 and AGT individually and as the genetic risk score (GRS) on the association between cumulative lead exposure and incident coronary heart disease (CHD) events...
2016: PloS One
Damon A Bell, Gerald F Watts
Familial hypercholesterolaemia (FH) is the most common autosomal dominant condition, with a prevalence of between one in 200 and one in 350 people in the general population. Untreated FH is associated with premature atherosclerotic cardiovascular disease (CVD). The prevalence of homozygous or compound heterozygous FH is now considered to be about one in 300 000 people. Treating children with FH reduces progression of atherosclerotic CVD and future CVD events. Most individuals with FH are undiagnosed, which together with the recent frequency data in the population and in individuals with premature coronary disease creates a public health challenge and mandates a key role for primary care...
September 5, 2016: Medical Journal of Australia
James P Corsetti, Ron T Gansevoort, Stephan J L Bakker, Robin P F Dullaart
BACKGROUND: Apolipoprotein E (apoE) is a component of all major lipoprotein classes with multiple functions including clearance of circulating triglyceride-rich lipoprotein particles and hepatic production of triglyceride-rich lipoprotein, thus affording several avenues for apoE involvement in atherosclerosis development. ApoE has 3 isoforms (E2, E3, and E4) based on a common genetic polymorphism. Numerous studies have been performed assessing cardiovascular disease (CVD) risk relative to the 6 resulting genotypes; however, surprisingly, few studies have been performed assessing risk attributable to apoE plasma levels either alone or in addition also taking into account apoE genotypes...
July 2016: Journal of Clinical Lipidology
Wafa Munir Ansari, Steve E Humphries, Abdul Khaliq Naveed, Omer Jamshed Khan, Dilshad Ahmed Khan
BACKGROUND: Genetic information has the potential to create a more personalised, prompt, early and accurate risk evaluation. The effect of these genetic variants on the serum biomarker levels (phenotype) needs to be studied to assess their potential causal role in the pathogenesis of premature coronary artery disease (PCAD). Objectives were to determine the genotypic distribution of interleukin (IL) 18, tumour necrosis factor-α (TNFA), IL6 and IL10 single nucleotide polymorphisms (SNPs) in Pakistani PCAD cases and disease free controls and to study the effect of these gene polymorphisms on the serum cytokine levels (IL18, TNFA, IL6 and IL10) and cytokine imbalance (IL18:IL10 and TNFA:IL10)...
August 24, 2016: Postgraduate Medical Journal
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