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Cardiovascular genomic

Bradley A Perkins, C Thomas Caskey, Pamila Brar, Eric Dec, David S Karow, Andrew M Kahn, Ying-Chen Claire Hou, Naisha Shah, Debbie Boeldt, Erin Coughlin, Gabby Hands, Victor Lavrenko, James Yu, Andrea Procko, Julia Appis, Anders M Dale, Lining Guo, Thomas J Jönsson, Bryan M Wittmann, Istvan Bartha, Smriti Ramakrishnan, Axel Bernal, James B Brewer, Suzanne Brewerton, William H Biggs, Yaron Turpaz, J Craig Venter
Reducing premature mortality associated with age-related chronic diseases, such as cancer and cardiovascular disease, is an urgent priority. We report early results using genomics in combination with advanced imaging and other clinical testing to proactively screen for age-related chronic disease risk among adults. We enrolled active, symptom-free adults in a study of screening for age-related chronic diseases associated with premature mortality. In addition to personal and family medical history and other clinical testing, we obtained whole-genome sequencing (WGS), noncontrast whole-body MRI, dual-energy X-ray absorptiometry (DXA), global metabolomics, a new blood test for prediabetes (Quantose IR), echocardiography (ECHO), ECG, and cardiac rhythm monitoring to identify age-related chronic disease risks...
March 19, 2018: Proceedings of the National Academy of Sciences of the United States of America
Ali R Keramati, Lisa R Yanek, Kruthika Iyer, Margaret A Taub, Ingo Ruczinski, Diane M Becker, Lewis C Becker, Nauder Faraday, Rasika A Mathias
Coronary artery disease (CAD) remains a major cause of mortality and morbidity worldwide. The aggregation of activated platelets on a ruptured atherosclerotic plaque is a critical step in most acute cardiovascular events like myocardial infarction. Platelet aggregation both at baseline and after aspirin is highly heritable. Genome-wide association studies (GWAS) have identified a common variant within the first intron of the platelet endothelial aggregation receptor1 (PEAR1), to be robustly associated with platelet aggregation...
March 19, 2018: Platelets
Kiminobu Tanizawa, Kazuo Chin
Sleep-disordered breathing (SDB) is characterized by repetitive episodes of decreased or arrested respiratory airflow during sleep. SDB is common and affects approximately 20% of the Japanese general population. Most traits of normal sleep and SDB show familial aggregation, suggesting significant effects of genetic factors. Obstructive sleep apnea (OSA) is the most common type of SDB and has a high heritability. Regardless of high heritability, no risk locus for OSA has reached a genome-wide level of significance (P < 5×10-8 ) in linkage or candidate gene analysis...
March 2018: Respiratory Investigation
Annalisa Trenti, Serena Tedesco, Carlotta Boscaro, Lucia Trevisi, Chiara Bolego, Andrea Cignarella
Estrogen plays an important role in the regulation of cardiovascular physiology and the immune system by inducing direct effects on multiple cell types including immune and vascular cells. Sex steroid hormones are implicated in cardiovascular protection, including endothelial healing in case of arterial injury and collateral vessel formation in ischemic tissue. Estrogen can exert potent modulation effects at all levels of the innate and adaptive immune systems. Their action is mediated by interaction with classical estrogen receptors (ERs), ERα and ERβ, as well as the more recently identified G-protein coupled receptor 30/G-protein estrogen receptor 1 (GPER1), via both genomic and non-genomic mechanisms...
March 15, 2018: International Journal of Molecular Sciences
Patrícia B S Celestino-Soper, Ty C Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L Clyde, Matteo Vatta
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that may lead to sudden death and can affect humans and other primates. In 2012, the alpha male bonobo of the Milwaukee County Zoo died suddenly and histologic evaluation found features of ARVC. This study sought to discover a possible genetic cause for ARVC in this individual. We sequenced our subject's DNA to search for deleterious variants in genes involved in cardiovascular disorders. Variants found were annotated according to the human genome, following currently available classification used for human diseases...
March 12, 2018: Scientific Reports
Meghan McGee, Shannon Bainbridge, Bénédicte Fontaine-Bisson
The fetal origins of health and disease framework has identified extremes in fetal growth and birth weight as factors associated with the lifelong generation of chronic diseases such as obesity, diabetes, cardiovascular disease, and hypertension. Maternal nutrition plays a critical role in fetal and placental development, in part by providing the methyl groups required to establish the fetus's genome structure and function, notably through DNA methylation. The goal of this narrative review is to describe the role of maternal dietary methyl donor (methionine, folate, and choline) and cofactor (zinc and vitamins B2, B6, and B12) intake in one-carbon metabolism and DNA methylation in the fetus and placenta, as well as their impacts on fetal growth and lifelong health outcomes, with specific examples in animals and humans...
February 26, 2018: Nutrition Reviews
Koh Ono, Yasuhide Kuwabara, Takahiro Horie, Takeshi Kimura
Protein-coding genes account for less than 2% of the whole genome. However, the advances in RNA sequencing and genome-wide analysis have demonstrated that most of the genome is capable of being transcribed. Moreover, recent studies have suggested that long non-coding RNAs (lncRNAs) are critical regulators of gene expression and epigenesis in both physiological and disease states. Several lncRNAs are functionally involved in cardiovascular diseases and may be potential therapeutic targets. Here, we review the current strategies for the discovery of functional lncRNAs and recently discovered lncRNAs in the cardiovascular field, focusing on cardiac development, hypertrophy, heart failure, and atherosclerosis...
March 10, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
Timothy J Stodola, Pengyuan Liu, Yong Liu, Andrew Vallejos, Aron M Geurts, Andrew S Greene, Mingyu Liang
A challenge to understanding enhancer-gene relationships is that enhancers are not always sequentially close to the gene they regulate. Physical proximity mapping through sequencing can provide an unbiased view of the chromatin close to the proximal promoter of the renin gene (Ren). Our objective was to determine genomic regions that physically interact with the renin proximal promoter, using two different genetic backgrounds, the Dahl salt sensitive and normotensive SS-13BN, which have been shown to have different regulation of plasma renin in vivo...
March 9, 2018: Physiological Genomics
Xingfu Huang, Yanjia Chen, Junhui Xiao, Zheng Huang, Liwei He, Dingli Xu, Jian Peng
OBJECTIVE: Although differentially expressed circRNAs have been proposed to be closely associated with epithelial-mesenchymal transition (EMT), the roles of circRNAs remain unclear in endothelial-to-mesenchymal transition (EndMT), which is a subcategory of EMT. Herein, we characterized the expression and potential function of circRNAs during TGF-ß1-induced EndMT in rat coronary artery endothelial cells (CAEC). METHODS: High-throughput RNA sequencing was performed for unbiasedly profiling the expression of circRNAs...
March 2018: Anatolian Journal of Cardiology
Aeron M Small, Christopher J O'Donnell, Scott M Damrauer
PURPOSE OF REVIEW: Cardiovascular disease is a leading cause of morbidity and mortality worldwide and is the focus of extensive biomedical research. Large genetic consortia combining data from many traditional prospective cohort and ascertained case-control study designs have facilitated the discovery of genetic associations for a variety of cardiovascular diseases including diabetes, coronary artery disease, and hypertension. Biobank-based genetic studies offer an alternative whereby large populations are genotyped and linked to electronic health records...
March 8, 2018: Current Cardiology Reports
Marco Busnelli, Stefano Manzini, Cinzia Parolini, Diana Escalante-Alcalde, Giulia Chiesa
LPP3 is an integral membrane protein belonging to a family of enzymes (LPPs) that display broad substrate specificity and catalyse dephosphorylation of several lipid substrates, including lysophosphatidic acid and sphingosine-1-phosphate. In mammals, the LPP family consists of three enzymes named LPP1, LPP2 and LPP3, which are encoded by three independent genes, PLPP1, PLPP2 and PLPP3, respectively (formerly known as PPAP2A, PPAP2C, PPAP2B). These three enzymes, in vitro, do not seem to differ for catalytic activities and substrate preferences...
March 2, 2018: Atherosclerosis
Féaron C Cassidy, Marika Charalambous
In the 1980s, mouse nuclear transplantation experiments revealed that both male and female parental genomes are required for successful development to term ( McGrath and Solter, 1983; Surani and Barton, 1983). This non-equivalence of parental genomes is because imprinted genes are predominantly expressed from only one parental chromosome. Uniparental inheritance of these genomic regions causes paediatric growth disorders such as Beckwith-Wiedemann and Silver-Russell syndromes (reviewed in Peters, 2014). More than 100 imprinted genes have now been discovered and the functions of many of these genes have been assessed in murine models...
March 7, 2018: Journal of Experimental Biology
Duojiao Wu, Xiangdong Wang, Hongzhi Sun
Mitochondrial malfunction is related to aging and to the onset of many diseases, such as obesity/diabetes, cancer, and cardiovascular and neurodegenerative diseases. The molecular principles of biological and toxicological processes the mitochondria can regulate should be disease-specific, cell type-specific, and drug targetable. Mitochondrial biology and toxicology is evolving and undergoing a revolution through fast-developing biotechnologies garnering increasing attention due to the importance of targeted therapies...
March 6, 2018: Cell Biology and Toxicology
Bradley J Toghill, Athanasios Saratzis, Peter J Freeman, Nicolas Sylvius, Matthew J Bown
Background: Abdominal aortic aneurysm (AAA) is a deadly cardiovascular disease characterised by the gradual, irreversible dilation of the abdominal aorta. AAA is a complex genetic disease but little is known about the role of epigenetics. Our objective was to determine if global DNA methylation and CpG-specific methylation at known AAA risk loci is associated with AAA, and the functional effects of methylation changes. Results: We assessed global methylation in peripheral blood mononuclear cell DNA from 92 individuals with AAA and 93 controls using enzyme-linked immunosorbent assays, identifying hyper-methylation in those with large AAA and a positive linear association with AAA diameter ( P  < 0...
2018: Clinical Epigenetics
Marja Steenman, Olivier Espitia, Blandine Maurel, Beatrice Guyomarch, Marie-Françoise Heymann, Marc-Antoine Pistorius, Benjamin Ory, Dominique Heymann, Rémi Houlgatte, Yann Gouëffic, Thibaut Quillard
Calcification is independently associated with cardiovascular events and morbidity. The calcification burden in atherosclerotic lesions quantitatively and qualitatively differs between arterial beds. Cardiovascular risk factors (CVRF) differentially affect plaque development between arterial beds. The aim of this study was to evaluate the impact of CVRF on atherosclerotic plaque calcification and to further study the molecular arterial heterogeneity that could account for these differences. Histological analysis was performed on atherosclerotic plaques from 153 carotid, 97 femoral and 28 infrapopliteal arteries...
March 2, 2018: Scientific Reports
Denis Pierron, Margit Heiske, Harilanto Razafindrazaka, Veronica Pereda-Loth, Jazmin Sanchez, Omar Alva, Amal Arachiche, Anne Boland, Robert Olaso, Jean-Francois Deleuze, Francois-Xavier Ricaut, Jean-Aimé Rakotoarisoa, Chantal Radimilahy, Mark Stoneking, Thierry Letellier
While admixed populations offer a unique opportunity to detect selection, the admixture in most of the studied populations occurred too recently to produce conclusive signals. By contrast, Malagasy populations originate from admixture between Asian and African populations that occurred ~27 generations ago, providing power to detect selection. We analyze local ancestry across the genomes of 700 Malagasy and identify a strong signal of recent positive selection, with an estimated selection coefficient >0.2...
March 2, 2018: Nature Communications
Niek Verweij, Yordi J van de Vegte, Pim van der Harst
Heart rate (HR) responds to exercise by increasing during exercise and recovering after exercise. As such, HR is an important predictor of mortality that researchers believe is modulated by the autonomic nervous system. However, the mechanistic basis underlying inter-individual differences has yet to be explained. Here, we perform a large-scale genome-wide analysis of HR increase and HR recovery in 58,818 UK Biobank individuals. Twenty-five independent SNPs in 23 loci are identified to be associated (p < 8...
March 1, 2018: Nature Communications
Yuya Seko, Kanji Yamaguchi, Yoshito Itoh
Nonalcoholic fatty liver disease (NAFLD) is the most prevalent chronic liver disease worldwide. Nonalcoholic steatohepatitis (NASH), a severe form of NAFLD, can lead to hepatocellular carcinoma (HCC) and hepatic failure. The development and progression of NAFLD are determined by environmental and genetic factors. The effect of genetic factors has been demonstrated by familial studies, twin studies and several cross-sectional studies. In the past 10 years, genome-wide association studies have revealed several single nucleotide polymorphisms (SNPs) associated with the pathology of NAFLD...
February 28, 2018: Clinical Journal of Gastroenterology
Laura Palanker Musselman, Jill L Fink, Ezekiel J Maier, Jared A Gatto, Michael R Brent, Thomas J Baranski
Insulin resistance is associated with obesity, cardiovascular disease, non-alcoholic fatty liver disease, and type 2 diabetes. These complications are exacerbated by a high-calorie diet, which we used to model type 2 diabetes in Drosophila melanogaster Our studies focused on the fat body, an adipose- and liver-like tissue that stores fat and maintains circulating glucose. A gene regulatory network was constructed to predict potential regulators of insulin signaling in this tissue. Genomic characterization of fat bodies suggested a central role for the transcription factor Seven-up (Svp)...
February 27, 2018: Genetics
Patrick J Cimino, David H Gutmann
The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system. While NF1 primarily affects the central and peripheral nervous system, multisystem involvement is the rule, with dermatologic, cardiovascular, gastrointestinal, and orthopedic affectation often reported...
2018: Handbook of Clinical Neurology
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