Chengqian Dai, Shu-Jui Kuo, Sung-Lin Hu, Chun-Hao Tsai, Yuan-Li Huang, Chien-Chung Huang, Lihong Wang, Guohong Xu, Chen-Ming Su, Chih-Hsin Tang
Vascular endothelial growth factor C (VEGF-C) promotes angiogenesis, a prominent feature in rheumatoid synovitis, contributing to the perpetuation of the global burden of rheumatoid arthritis (RA). VEGF-C gene polymorphisms predict the risk of developing various human diseases, such as urothelial cell carcinoma, oral cancer and coronary artery disease. We sought to determine whether single nucleotide polymorphisms (SNPs) of the VEGF-C gene can predict the risk of RA. Our study recruited 210 patients with RA and 373 healthy controls between 2007 and 2015, and performed comparative genotyping for SNPs rs7664413, rs11947611, rs1485766, rs2046463 and rs3775194...
2019: International Journal of Medical Sciences
Hao Qiu, Zheng Chen, Lu Lv, Weifeng Tang, Rong Hu
Coronary artery disease (CAD), a common cardiovascular disease, has become a vital cause of mortality worldwide. Genetic microRNA ( miR ) polymorphisms might contribute to CAD susceptibility. In this study, we selected miR-146a , miR-196a2 , and miR-499 single nucleotide polymorphisms and conducted a case-control study. In total, 505 CAD cases and 1109 controls were recruited. We used SNPscan™ genotyping assay to obtain genotyping of miR rs2910164, rs11614913, and rs3746444 variants. We found that miR-196a2 rs11614913 T > C decreased the susceptibility of myocardial infarction (MI) (TC vs...
November 6, 2019: DNA and Cell Biology
C Mary Schooling, Glen D Johnson, Jean Grassman
Lead is pervasive, although lead exposure has fallen in response to public health efforts. Observationally, lead is positively associated with cardiovascular disease and hypertension. We used separate-sample instrumental variable analysis with genetic instruments (Mendelian randomization) based on 13 single nucleotide polymorphisms (SNP), from a genome wide association study, strongly (p-value < 5 × 10-6 ) and independently associated with blood lead. These SNPs were applied to a large extensively genotyped coronary artery disease (CAD) study (cases = <76014, controls = <264785) largely based on CARDIoGRAPMplusC4D 1000 Genomes and the UK Biobank SOFT CAD, to the UK Biobank (n = 361,194) for blood pressure and to the DIAGRAM 1000 genomes diabetes case (n = 26,676)-control (n = 132,532) study...
November 5, 2019: Scientific Reports
Simin Jafaripour, Payam Sasanejad, Malihe Dadgarmoghaddam, Ariane Sadr-Nabavi
Coronary artery disease (CAD) and ischemic stroke (IS) are commonly considered distinct disease phenotypes. However, there is some evidence in favor of a degree of overlap between genetic susceptibility to CAD and genetic risk factors for IS. In the present study, we aimed to examine the role of two single-nucleotide polymorphisms (SNPs), rs3825807 and rs11556924, located in the ADAMTS7 and ZC3HC1 genes, respectively, associated with CAD in published GWASs in European populations and their possible contribution to the development of coronary atherosclerosis and cerebral LA atherosclerosis in a case-control study of an the Iranian population...
2019: Critical Reviews in Eukaryotic Gene Expression
Wole Akosile, Joanne Voisey, Bruce Lawford, David Colquhoun, Ross McD Young, Divya Mehta
BACKGROUND: Previous studies have established that coronary artery disease is associated with excess inflammation. These studies have shown an elevation of both pro and anti-inflammatory cytokines in sufferers of coronary artery disease. There is increasing interest in the role played by the inflammasome Nod Like Receptor family pyrin domain containing 3 (NLRP3) in the aetiology of coronary artery disease. Increased severity of coronary artery disease correlates with higher levels of expression of NLRP3...
October 19, 2019: Gene
Yang Li, Han Yan, Jian Guo, Yingchun Han, Cuifang Zhang, Xiuying Liu, Jie Du, Xiao-Li Tian
AIMS: Genetic contribution to coronary artery disease (CAD) remains largely unillustrated. Although transcriptomic profiles have identified dozens of genes that are differentially expressed in normal and atherosclerotic vessels, whether those genes are genetically associated with CAD remains to be determined. Here, we combined genetic association studies, transcriptome profiles and in vitro and in vivo functional experiments to identify novel susceptibility genes for CAD. METHODS AND RESULTS: Through an integrative analysis of transcriptome profiles with genome-wide association studies for CAD, we obtained 18 candidate genes and selected one representative SNP for each gene for multi-centered validations...
October 12, 2019: Cardiovascular Research
V Eric Kerchberger, Yi Huang, Tatsuki Koyama, M Benjamin Shoemaker, Dawood Darbar, Julie A Bastarache, Lorraine B Ware, Ciara M Shaver
OBJECTIVES: New-onset atrial fibrillation during critical illness is an independent risk factor for mortality. The ability to identify patients at high risk for new-onset atrial fibrillation is limited. We hypothesized that genetic susceptibility contributes to risk of new-onset atrial fibrillation in the ICU. DESIGN: Retrospective sub-study of a prospective observational cohort study. SETTING: Medical and general surgical ICUs in a tertiary academic medical center...
October 10, 2019: Critical Care Medicine
Abirami Veluchamy, Lucia Ballerini, Veronique Vitart, Katharina E Schraut, Mirna Kirin, Harry Campbell, Peter K Joshi, Devanjali Relan, Sarah Harris, Ellie Brown, Suraj S Vaidya, Baljean Dhillon, Kaixin Zhou, Ewan R Pearson, Caroline Hayward, Ozren Polasek, Ian J Deary, Thomas MacGillivray, James F Wilson, Emanuele Trucco, Colin N A Palmer, Alexander S F Doney
OBJECTIVE: The retina may provide readily accessible imaging biomarkers of global cardiovascular health. Increasing evidence suggests variation in retinal vascular traits is highly heritable. This study aimed to identify the genetic determinants of retinal vascular traits. Approach and Results: We conducted a meta-analysis of genome-wide association studies for quantitative retinal vascular traits derived using semi-automatic image analysis of digital retinal photographs from the GoDARTS (Genetics of Diabetes Audit and Research in Tayside; N=1736) and ORCADES (Orkney Complex Disease Study; N=1358) cohorts...
October 10, 2019: Arteriosclerosis, Thrombosis, and Vascular Biology
Chuanlong Fan, Tao Huang, Xuejun Kong, Xiaohong Zhang, Zuquan Zou, Jing Xiao
Although a large body of literature reported that high intake of vitamin E played a possible role in reducing risk of cardiometabolic diseases, conflicting results were also found in some observational studies due to confounding factors. Hence, we used a Mendelian randomization study as an alternative way to examine the causality between circulating vitamin E and cardiometabolic diseases. Summary-level data were extracted from consortia and three single nucleotide polymorphisms were used as instrumental variables...
September 2019: Journal of Clinical Biochemistry and Nutrition
Tomasz Iwanicki, Anna Balcerzyk, Paweł Niemiec, Wanda Trautsolt, Władysław Grzeszczak, Anna Ochalska-Tyka, Jolanta Krauze, Tomasz Nowak, Iwona Żak
Polymorphic variants of the CYP7A1 gene can increase the risk of atherosclerosis-based coronary artery disease (CAD) and modify serum lipid markers. Method: We studied haplotype-tagging single nucleotide polymorphisms of CYP7A1 in the Caucasian population and if they are associated with CAD, its symptoms, and any of its risk factors. Results: We did not find the genetic variants of CYP7A1 to be associated with an increased risk of CAD. However, we did find that the common rs3808607 variant is associated with modified concentrations of serum total cholesterol and LDL...
October 3, 2019: Biomarkers in Medicine
Svetlana Nikulina, Ivan Artyukhov, Pavel Shesternya, Oksana Gavrilyuk, Vladimir Maksimov, Mikhail Voyevoda, Denis Brusentsov
The aim of the present study was to investigate the susceptibility of two coronary artery disease (CAD)-associated single nucleotide polymorphisms on 9p21 ( rs1333049 and rs10757278 ) to myocardial infarction (MI) in a primary (stratification of high risk group for MI) and secondary prevention setting. The prospective observational study included 500 patients with MI [411 males (82.2%) and 89 females (17.8%)] under 65 years. The risk of MI for carriers of the homozygous CC genotype of rs1333049 and homozygous GG genotype of rs10757278 was 1...
October 2019: Experimental and Therapeutic Medicine
Jarosław Gorący, Mariusz Kaczmarczyk, Andrzej Ciechanowicz, Krzysztof Safranow, Joanna Gorący, Katarzyna Jakubowska, Dariusz Chlubek, Iwona Gorący
Introduction: Endothelial dysfunction is one of the most important factors implicated in the pathogenesis of coronary artery disease (CAD). The aim of this study was to investigate the association of the E-selectin gene ( SELE ) with CAD and CAD-related traits using tagging polymorphisms. Material and methods: A total of 379 Polish patients who had undergone angiography were included: 261 patients with angiographically documented CAD, 202 CAD patients without myocardial infarction (CAD/MI(-) group) and 59 patients with myocardial infarction (CAD/MI(+) group) as well as 118 healthy control subjects (non-CAD)...
September 2019: Archives of Medical Science: AMS
Stepan Smetnev, Marina Klimushina, Vladimir Kutsenko, Anna Kiseleva, Nadezhda Gumanova, Alexander Kots, Olga Skirko, Alexandra Ershova, Elena Yarovaya, Victoria Metelskaya, Alexey Meshkov, Oksana Drapkina
Adiponectin is encoded by the ADIPOQ gene and participates in the pathogenesis of cardiovascular and metabolic diseases. The goal of the study was to assess associations of rs17300539, rs266729, rs182052, rs2241766, and rs17366743 single nucleotide polymorphisms (SNPs) of the ADIPOQ gene with concentrations of serum adiponectin and with coronary atherosclerosis and type 2 diabetes mellitus in 447 patients (316 men and 131 women) subjected to coronary angiography. SNPs of the ADIPOQ gene of the study participants were genotyped using real-time PCR...
September 26, 2019: Biomolecules
Bellary Kalpana, Dwarkanath K Murthy, Nagalla Balakrishna, Mohini T Aiyengar
INTRODUCTION: Asian Indians have a propensity for premature, severe, and diffuse coronary artery disease (CAD). Several single-nucleotide polymorphisms (SNPs) in the 'core CAD' region of the chromosomal region 9p21.3 are known to be strongly associated with CAD. OBJECTIVES: We aimed to study SNPs in the 9p21.3 region associated with CAD and premature CAD and identify their association with demographic and clinical characteristics in an Asian Indian population. METHODS: SNP genotyping was performed for 30 SNPs of the 9p21...
May 2019: Indian Heart Journal
Dominik Rath, Saskia von Ungern-Sternberg, David Heinzmann, Manuel Sigle, Mona Monzien, Katja Horstmann, Elke Schaeffeler, Stefan Winter, Karin Müller, Patrick Groga-Bada, Monika Zdanyte, Oliver Borst, Alma Zernecke, Meinrad Gawaz, Peter Martus, Matthias Schwab, Tobias Geisler, Peter Seizer
BACKGROUND: Cyclophilin A (CyPA) is an important intracellular molecule mediating essential cellular functions such as signaling and protein folding. Enhanced CyPA platelet surface expression is associated with hypertension and hypercholesterolemia in patients with stable coronary artery disease (CAD). In patients with acute myocardial infarction CyPA platelet surface expression is significantly decreased. The aim of this study was to investigate possible associations of CyPA platelet surface expression and a clinically relevant CyPA single-nucleotide polymorphism (CyPA PPIA rs6850) with prognosis in patients with symptomatic cardiovascular disease...
September 13, 2019: Journal of Thrombosis and Haemostasis: JTH
Tao Wang, Lin Xu
Observational studies have reported a cardioprotective effect of vitamin E whereas intervention trials failed to confirm its beneficial effects, and even some reported adverse effects of vitamin E supplements on coronary artery disease (CAD). To clarify, we conducted a two-sample mendelian randomization study to investigate causal association of vitamin E with the risk of CAD. Three single nucleotide polymorphisms (SNPs) identified in a genome-wide analysis study including 7781 individuals of European descent, rs964184, rs2108622, and rs11057830 were used as the genetic instruments for vitamin E...
September 9, 2019: Nutrients
Matthias Prestel, Caroline Prell-Schicker, Tom Webb, Rainer Malik, Barbara Lindner, Natalie Ziesch, Monika Rex-Haffner, Simone Röh, Thanatip Viturawong, Manuel Lehm, Michal Mokry, Hester den Ruijter, Saskia Haitjema, Yaw Asare, Flavia Söllner, Maryam Ghaderi Najafabadi, Rédouane Aherrahrou, Mete Civelek, Nilesh J Samani, Matthias Mann, Christof Haffner, Martin Dichgans
Background and Purpose- Genome-wide association studies have identified the HDAC9 (histone deacetylase 9) gene region as a major risk locus for atherosclerotic stroke and coronary artery disease in humans. Previous results suggest a role of altered HDAC9 expression levels as the underlying disease mechanism. rs2107595, the lead single nucleotide polymorphism for stroke and coronary artery disease resides in noncoding DNA and colocalizes with histone modification marks suggestive of enhancer elements. Methods- To determine the mechanisms by which genetic variation at rs2107595 regulates HDAC9 expression and thus vascular risk we employed targeted resequencing, proteome-wide search for allele-specific nuclear binding partners, chromatin immunoprecipitation, genome-editing, reporter assays, circularized chromosome conformation capture, and gain- and loss-of-function experiments in cultured human cell lines and primary immune cells...
September 10, 2019: Stroke; a Journal of Cerebral Circulation
Anthony S Findley, Allison L Richards, Cristiano Petrini, Adnan Alazizi, Elizabeth Doman, Alexander G Shanku, Gordon O Davis, Nancy Hauff, Yoram Sorokin, Xiaoquan Wen, Roger Pique-Regi, Francesca Luca
GWAS and eQTL studies identified thousands of genetic variants associated with complex traits and gene expression. Despite the important role of environmental exposures in complex traits, only a limited number of environmental factors are measured in these studies. Measuring molecular phenotypes in tightly controlled cellular environments provides a more tractable setting to study gene-environment interactions in the absence of other confounding variables. We performed RNA-seq and ATAC-seq in endothelial cells exposed to retinoic acid, dexamethasone, caffeine, and selenium to model genetic and environmental effects on gene regulation in the vascular endothelium, a common site of pathology in cardiovascular disease...
September 6, 2019: Genetics
Iyas Daghlas, Hassan S Dashti, Jacqueline Lane, Krishna G Aragam, Martin K Rutter, Richa Saxena, Céline Vetter
BACKGROUND: Observational studies suggest associations between extremes of sleep duration and myocardial infarction (MI), but the causal contribution of sleep to MI and its potential to mitigate genetic predisposition to coronary disease is unclear. OBJECTIVES: This study sought to investigate associations between sleep duration and incident MI, accounting for joint effects with other sleep traits and genetic risk of coronary artery disease, and to assess causality using Mendelian randomization (MR)...
September 10, 2019: Journal of the American College of Cardiology
Maximilian König, Samita Joshi, David M Leistner, Ulf Landmesser, David Sinning, Elisabeth Steinhagen-Thiessen, Ilja Demuth
PURPOSE: The LipidCardio Study was established for in-depth analyses of cardiovascular risk factors, providing well-defined cardiovascular and metabolic phenotypes. In particular, the role of lipoproteins in the pathobiological process and treatment of cardiovascular disease (CVD) will be a main focus. PARTICIPANTS: 1005 individuals aged 21 years and older undergoing cardiac catheterisation during 17 months at a tertiary academic cardiology centre were enrolled (troponin-positive acute coronary syndrome was exclusion criterion)...
September 3, 2019: BMJ Open
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