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Cardiovascular genomic

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https://www.readbyqxmd.com/read/28515798/epigenome-wide-association-of-myocardial-infarction-with-dna-methylation-sites-at-loci-related-to-cardiovascular-disease
#1
Masahiro Nakatochi, Sahoko Ichihara, Ken Yamamoto, Keiko Naruse, Shigeki Yokota, Hiroyuki Asano, Tatsuaki Matsubara, Mitsuhiro Yokota
BACKGROUND: Development of cardiovascular disease (CVD), including coronary artery disease, arrhythmia, and ischemic stroke, depends on environmental and genetic factors. To investigate the epigenetic basis of myocardial infarction (MI), we performed an epigenome-wide association study for this condition in elderly Japanese subjects. A total of 192 case subjects with MI and 192 control subjects were recruited from hospital attendees and the general population, respectively. Genome-wide DNA methylation (DNAm) profiles for DNA isolated from whole blood were obtained by analysis with an Infinium HumanMethylation450 BeadChip...
2017: Clinical Epigenetics
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/28506279/uncovering-the-trimethylamine-producing-bacteria-of-the-human-gut-microbiota
#3
Silke Rath, Benjamin Heidrich, Dietmar H Pieper, Marius Vital
BACKGROUND: Trimethylamine (TMA), produced by the gut microbiota from dietary quaternary amines (mainly choline and carnitine), is associated with atherosclerosis and severe cardiovascular disease. Currently, little information on the composition of TMA producers in the gut is available due to their low abundance and the requirement of specific functional-based detection methods as many taxa show disparate abilities to produce that compound. RESULTS: In order to examine the TMA-forming potential of microbial communities, we established databases for the key genes of the main TMA-synthesis pathways, encoding choline TMA-lyase (cutC) and carnitine oxygenase (cntA), using a multi-level screening approach on 67,134 genomes revealing 1107 and 6738 candidates to exhibit cutC and cntA, respectively...
May 15, 2017: Microbiome
https://www.readbyqxmd.com/read/28505126/unprocessed-meat-consumption-and-incident-cardiovascular-diseases-in-korean-adults-the-korean-genome-and-epidemiology-study-koges
#4
Kyong Park, Jakyung Son, Jiyoung Jang, Ryungwoo Kang, Hye-Kyung Chung, Kyong Won Lee, Seung-Min Lee, Hyunjung Lim, Min-Jeong Shin
Meat consumption has been shown to be associated with cardiovascular disease (CVD) risk in Western societies; however, epidemiological data are limited on the Korean population. Therefore, we examined the associations between unprocessed meat consumption and CVD incidence in Korea. Data were derived from the Ansung-Ansan cohort (2001-2012), including 9370 adults (40-69 years) without CVD or cancer at baseline. Total unprocessed meat consumption was estimated as the sum of unprocessed red meat (beef, pork, and organ meat) and poultry consumption...
May 15, 2017: Nutrients
https://www.readbyqxmd.com/read/28503508/carbohydrate-composition-associated-with-the-2-year-incidence-of-metabolic-syndrome-in-korean-adults
#5
Nam H Cho, Ara K Cho, Hyun Kyu Kim, Jong Bae Kim, Kyung Eun Lee, Sung Soo Kim, Yeon-Jung Kim, Hak C Jang, Inkyung Baik
The aim of this study was to investigate the association between macronutrient composition and metabolic syndrome (MetS) incidence in Korean adults. Data were obtained from a cohort of 10,030 members aged 40 to 69 years who were enrolled from the 2 cities (Ansung and Ansan) between 2001 and 2002 to participate in the Korean Genome Epidemiology Study. Of these members, 5,565 participants, who were free of MetS and reported no diagnosis of cardiovascular disease at baseline, were included in this study. MetS was defined using the criteria of the National Cholesterol Education Program-Adult Treatment Panel III and Asia-Pacific criteria for waist circumference...
April 2017: Clinical Nutrition Research
https://www.readbyqxmd.com/read/28501478/osr1-functions-downstream-of-hedgehog-pathway-to-regulate-foregut-development
#6
Lu Han, Jingyue Xu, Emily Grigg, Megan Slack, Praneet Chaturvedi, Rulang Jiang, Aaron M Zorn
During early fetal development, paracrine Hedgehog (HH) ligands secreted from the foregut epithelium activate Gli transcription factors in the surrounding mesenchyme to coordinate formation of the respiratory system, digestive track and the cardiovascular network. Although disruptions to this process can lead to devastating congenital defects, the underlying mechanisms and downstream targets, are poorly understood. We show that the zinc finger transcription factor Osr1 is a novel HH target as Osr1 expression in the foregut mesenchyme depends on HH signaling and the effector of HH pathway Gli3 binds to a conserved genomic loci near Osr1 promoter region...
May 10, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28497038/epigenetics-and-vascular-diseases-influence-of-non-coding-rnas-and-their-clinical-implications
#7
REVIEW
Leonardo Elia, Manuela Quintavalle
Epigenetics refers to heritable mechanisms able to modulate gene expression that do not involve alteration of the genomic DNA sequence. Classically, mechanisms such as DNA methylation and histone modifications were part of this classification. Today, this field of study has been expanded and includes also the large class of non-coding RNAs (ncRNAs). Indeed, with the extraordinary possibilities introduced by the next-generation sequencing approaches, our knowledge of the mammalian transcriptome has greatly improved...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28496562/epigenetics-of-lipid-phenotypes
#8
Sergi Sayols-Baixeras, Marguerite R Irvin, Donna K Arnett, Roberto Elosua, Stella W Aslibekyan
Dyslipidemia is a well-established risk factor for cardiovascular disease, the main cause of death worldwide. Blood lipid profiles are patterned by both genetic and environmental factors. In recent years, epigenetics has emerged as a paradigm that unifies these influences. In this review, we have summarized the latest evidence implicating epigenetic mechanisms-DNA methylation, histone modification, and regulation by RNAs-in lipid homeostasis. Key findings have emerged in a number of novel epigenetic loci located in biologically plausible genes (e...
October 2016: Current Cardiovascular Risk Reports
https://www.readbyqxmd.com/read/28496102/partial-microduplication-in-the-histone-acetyltransferase-complex-member-kansl1-is-associated-with-congenital-heart-defects-in-22q11-2-microdeletion-syndrome-patients
#9
Luis E León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M Repetto
22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. Patients with the deletion present features that include neuropsychiatric problems, craniofacial abnormalities and cardiovascular malformations. However, the phenotype is highly variable and the factors related to the clinical heterogeneity are not fully understood. About 65% of patients with 22q11...
May 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28494500/exercise-as-an-effective-transgenerational-strategy-to-overcome-metabolic-syndrome-in-the-future-generation-are-we-there
#10
Ramires Alsamir Tibana, Octávio Luiz Franco, Rinaldo Wellerson Pereira, James Navalta, Jonato Prestes
Metabolic syndrome (MetS) consist in a combination of cardiovascular risk factors including elevated blood pressure, dyslipidemia, insulin resistance, hyperglycemia and abdominal obesity. Exercise performed before, during and after pregnancy can exert positive effects to counteract MetS risk factors. Here this review aims to analyze the effects of exercise performed before (fathers and mothers) and after periconception (mothers) by using experimental models and its effects on MetS risk factors in offspring...
May 11, 2017: Experimental and Clinical Endocrinology & Diabetes
https://www.readbyqxmd.com/read/28487469/phosphoinositide-3-kinase-p110%C3%AE-gene-delivery-limits-diabetes-induced-cardiac-nadph-oxidase-and-cardiomyopathy-in-a-mouse-model-with-established-diastolic-dysfunction
#11
Darnel Prakoso, Miles J DeBlasio, Chengxue Qin, Sarah Rosli, Helen Kiriazis, Hongwei Qian, Xiao-Jun Du, Kate L Weeks, Paul Gregorevic, Julie R McMullen, Rebecca H Ritchie
Phosphoinositide 3-kinase [PI3K (p110α)] is able to negatively regulate the diabetes-induced increase in NADPH oxidase in the heart. Patients affected by diabetes exhibit significant cardiovascular morbidity and mortality, at least in part due to a cardiomyopathy characterised by oxidative stress and left ventricular (LV) dysfunction. Thus, PI3K (p110α) may represent a novel approach to protect the heart from diabetes-induced cardiac oxidative stress and dysfunction. In the current study, we investigated the therapeutic potential of a delayed intervention with cardiac-targeted PI3K gene therapy, administered to mice with established diabetes-induced LV diastolic dysfunction...
May 9, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28482023/understanding-the-genomic-basis-of-adaptive-response-to-variable-osmotic-niches-in-freshwater-prawns-a-comparative-intraspecific-rna-seq-analysis-of-macrobrachium-australiense
#12
Azam Moshtaghi, Md Lifat Rahi, Peter B Mather, David A Hurwood
Understanding the molecular basis of adaptive response to variable environmental conditions is a central goal of evolutionary biology. Here we sought to identify potential outlier SNPs (single nucleotide polymorphisms) in three wild populations of a freshwater prawn (Macrobrachium australiense) that are exposed to differing osmotic niches by using a comparative transcriptomics approach. De novo assembly of approximately 542 million (75 nt) pair end reads collected from 10 individuals revealed 123,396 longer contigs/transcripts of variable length, that showed 97...
May 6, 2017: Journal of Heredity
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
#13
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/28475226/molecular-cytogenetic-characterization-of-five-f8-complex-rearrangements-utility-for-haemophilia-a-genetic-counselling
#14
Y Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA)...
May 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28472454/sex-in-basic-research-concepts-in-the-cardiovascular-field
#15
Renée Ventura-Clapier, Elke Dworatzek, Ute Seeland, Georgios Kararigas, Jean-Francois Arnal, Sandra Brunelleschi, Thomas C Carpenter, Jeanette Erdmann, Flavia Franconi, Elisa Giannetta, Marek Glezerman, Susanna M Hofmann, Claudine Junien, Miyuki Katai, Karolina Kublickiene, Inke R König, Gregor Majdic, Walter Malorni, Christin Mieth, Virginia M Miller, Rebecca M Reynolds, Hiroaki Shimokawa, Cara Tannenbaum, Anna Maria D'Ursi, Vera Regitz-Zagrosek
Women and men, female and male animals and cells are biologically different, and acknowledgement of this fact is critical to advancing medicine. However, incorporating concepts of sex-specific analysis in basic research is largely neglected, introducing bias into translational findings, clinical concepts and drug development. Research funding agencies recently approached these issues but implementation of policy changes in the scientific community is still limited, probably due to deficits in concepts, knowledge and proper methodology...
June 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28471759/advancing-the-science-of-myocardial-recovery-with-mechanical-circulatory-support-a-working-group-of-the-national-heart-lung-and-blood-institute
#16
Stavros G Drakos, Francis D Pagani, Martha S Lundberg, J Timothy Baldwin
The medical burden of heart failure (HF) has spurred interest in clinicians and scientists to develop therapies to restore the function of a failing heart. To advance this agenda, the National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group of experts from June 2 to 3, 2016, in Bethesda, Maryland, to develop NHLBI recommendations aimed at advancing the science of cardiac recovery in the setting of mechanical circulatory support (MCS). MCS devices effectively reduce volume and pressure overload that drives the cycle of progressive myocardial dysfunction, thereby triggering structural and functional reverse remodeling...
April 29, 2017: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/28468832/little-fish-big-data-zebrafish-as-a-model-for-cardiovascular-and-metabolic-disease
#17
REVIEW
Philipp Gut, Sven Reischauer, Didier Y R Stainier, Rima Arnaout
The burden of cardiovascular and metabolic diseases worldwide is staggering. The emergence of systems approaches in biology promises new therapies, faster and cheaper diagnostics, and personalized medicine. However, a profound understanding of pathogenic mechanisms at the cellular and molecular levels remains a fundamental requirement for discovery and therapeutics. Animal models of human disease are cornerstones of drug discovery as they allow identification of novel pharmacological targets by linking gene function with pathogenesis...
July 1, 2017: Physiological Reviews
https://www.readbyqxmd.com/read/28465505/hypertension-reduces-soluble-guanylyl-cyclase-expression-in-the-mouse-aorta-via-the-notch-signaling-pathway
#18
Catarina Rippe, Baoyi Zhu, Katarzyna K Krawczyk, Ed Van Bavel, Sebastian Albinsson, Jonas Sjölund, Erik N T P Bakker, Karl Swärd
Hypertension is a dominating risk factor for cardiovascular disease. To characterize the genomic response to hypertension, we administered vehicle or angiotensin II to mice and performed gene expression analyses. AngII treatment resulted in a robust increase in blood pressure and altered expression of 235 genes in the aorta, including Gucy1a3 and Gucy1b3 which encode subunits of soluble guanylyl cyclase (sGC). Western blotting and immunohistochemistry confirmed repression of sGC associated with curtailed relaxation via sGC activation...
May 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28465157/gper1-gpr30-in-the-brain-crosstalk-with-classical-estrogen-receptors-and-implications-for-behavior
#19
REVIEW
Maria M Hadjimarkou, Nandini Vasudevan
The GPER1/GPR30 is a membrane estrogen receptor (mER) that binds 17β-estradiol (17β-E) with high affinity and is thought to play a role in cancer progression and cardiovascular health. Though widespread in the central nervous system, less is known about this receptor's function in the brain. GPER1 has been shown to activate kinase cascades and calcium flux within cells rapidly, thus fitting in with the idea of being a mER that mediates non-genomic signaling by estrogens. Signaling from GPER1 has been shown to improve spatial memory, possibly via release of neurotransmitters and generation of new spines on neurons in the hippocampus...
April 29, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28461778/expression-profile-of-mitochondrial-voltage-dependent-anion-channel-1-vdac1-influenced-genes-is-associated-with-pulmonary-hypertension
#20
Tong Zhou, Haiyang Tang, Ying Han, Dustin Fraidenburg, Young-Won Kim, Donghee Lee, Jeongyoon Choi, Hyoweon Bang, Jae-Hong Ko
Several human diseases have been associated with mitochondrial voltage-dependent anion channel-1 (VDAC1) due to its role in calcium ion transportation and apoptosis. Recent studies suggest that VDAC1 may interact with endothelium-dependent nitric oxide synthase (eNOS). Decreased VDAC1 expression may limit the physical interaction between VDAC1 and eNOS and thus impair nitric oxide production, leading to cardiovascular diseases, including pulmonary arterial hypertension (PAH). In this report, we conducted meta-analysis of genome-wide expression data to identify VDAC1 influenced genes implicated in PAH pathobiology...
May 2017: Korean Journal of Physiology & Pharmacology
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