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Circulation. Cardiovascular Genetics

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https://www.readbyqxmd.com/read/27879314/genetic-variation-in-the-slc8a1-calcium-signaling-pathway-is-associated-with-susceptibility-to-kawasaki-disease-and-coronary-artery-abnormalities
#1
Chisato Shimizu, Hariklia Eleftherohorinou, Victoria J Wright, Jihoon Kim, Martin P Alphonse, James C Perry, Rolando Cimaz, David Burgner, Nagib Dahdah, Long T Hoang, Chiea-Chuen Khor, Andrea Salgado, Adriana H Tremoulet, Sonia Davila, Taco W Kuijpers, Martin L Hibberd, Todd A Johnson, Atsushi Takahashi, Tatsuhiko Tsunoda, Michiaki Kubo, Toshihiro Tanaka, Yoshihiro Onouchi, Rae S M Yeung, Lachlan J M Coin, Michael Levin, Jane C Burns
BACKGROUND: -Kawasaki disease (KD) is an acute pediatric vasculitis in which host genetics influence both susceptibility to KD and the formation of coronary artery aneurysms. Variants discovered by genome-wide association studies (GWAS) and linkage studies only partially explain the influence of genetics on KD susceptibility. METHODS AND RESULTS: -To search for additional functional genetic variation, we performed pathway and gene stability analysis on a GWAS dataset...
November 21, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27879313/international-registry-of-patients-carrying-tgfbr1-or-tgfbr2-mutations-results-of-the-montalcino-aortic-consortium
#2
Guillaume Jondeau, Jacques Ropers, Ellen Regalado, Alan Braverman, Arturo Evangelista, Guisela Teixido, Julie De Backer, Laura Muiño-Mosquera, Sophie Naudion, Cecile Zordan, Takayuki Morisaki, Hiroto Morisaki, Yskert Von Kodolitsch, Sophie Dupuis-Girod, Shaine A Morris, Richmond Jeremy, Sylvie Odent, Lesley C Adès, Madhura Bakshi, Katherine Holman, Scott LeMaire, Olivier Milleron, Maud Langeois, Myrtille Spentchian, Melodie Aubart, Catherine Boileau, Reed Pyeritz, Dianna M Milewicz
BACKGROUND: -The natural history of aortic diseases in patients with TGFBR1 or TGFBR2 mutations reported by different investigators has varied greatly. In particular, the current recommendations for the timing of surgical repair of the aortic root aneurysms may be overly aggressive. METHODS AND RESULTS: -The Montalcino Aortic Consortium, which includes 15 centers worldwide that specialize in heritable thoracic aortic diseases, was used to gather data on 441 patients from 228 families, with 176 cases harboring a mutation in TGBR1 and 265 in TGFBR2 Patients harboring a TGFBR1 mutation have similar survival rates (80% survival at 60 years), aortic risk (23% aortic dissection, 18% preventive aortic surgery), and prevalence of extra-aortic features (29% hypertelorism, 53% cervical arterial tortuosity, 27% wide scars) when compared to patients harboring a TGFBR2 mutation...
November 21, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27872106/mthfd1-polymorphisms-modify-the-associations-of-plasma-glycine-and-serine-with-risk-of-ami-in-patients-with-stable-angina-pectoris-in-wenbit
#3
Yunpeng Ding, Eva R Pedersen, Gard F T Svingen, Øyvind Helgeland, Jesse F Gregory, Kjetil H Løland, Klaus Meyer, Grethe S Tell, Per M Ueland, Ottar K Nygård
BACKGROUND: -Serine and glycine interconversion and methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-mediated one-carbon transfer are the major sources of methyl groups for one-carbon metabolism. Recently, plasma glycine and a common polymorphism in MTHFD1 have been associated with risk of acute myocardial infarction (AMI). It is therefore of interest to explore if these two pathways interact in relation to AMI. METHODS AND RESULTS: -A total of 2571 participants in the Western Norway B Vitamin Intervention Trial (WENBIT) undergoing coronary angiography for stable angina pectoris were studied...
November 21, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27872105/multiethnic-exome-wide-association-study-of-subclinical-atherosclerosis
#4
Pradeep Natarajan, Joshua C Bis, Lawrence F Bielak, Amanda J Cox, Marcus Dörr, Mary F Feitosa, Nora Franceschini, Xiuqing Guo, Shih-Jen Hwang, Aaron Isaacs, Min A Jhun, Maryam Kavousi, Ruifang Li-Gao, Leo-Pekka Lyytikäinen, Riccardo E Marioni, Ulf Schminke, Nathan O Stitziel, Hayato Tada, Jessica van Setten, Albert V Smith, Dina Vojinovic, Lisa R Yanek, Jie Yao, Laura M Yerges-Armstrong, Najaf Amin, Usman Baber, Ingrid B Borecki, J Jeffrey Carr, Yii-Der Ida Chen, L Adrienne Cupples, Pim A de Jong, Harry de Koning, Bob D de Vos, Ayse Demirkan, Valentin Fuster, Oscar H Franco, Mark O Goodarzi, Tamara B Harris, Susan R Heckbert, Gerardo Heiss, Udo Hoffmann, Albert Hofman, Ivana Išgum, J Wouter Jukema, Mika Kähönen, Sharon L R Kardia, Brian G Kral, Lenore J Launer, Joseph Massaro, Roxana Mehran, Braxton D Mitchell, Thomas H Mosley, Renée de Mutsert, Anne B Newman, Khanh-Dung Nguyen, Kari E North, Jeffrey R O'Connell, Matthijs Oudkerk, James S Pankow, Gina M Peloso, Wendy Post, Michael A Province, Laura M Raffield, Olli T Raitakari, Dermot F Reilly, Fernando Rivadeneira, Frits Rosendaal, Samantha Sartori, Kent D Taylor, Alexander Teumer, Stella Trompet, Stephen T Turner, André G Uitterlinden, Dhananjay Vaidya, Aad van der Lugt, Uwe Völker, Joanna M Wardlaw, Christina L Wassel, Stefan Weiss, Mary K Wojczynski, Diane M Becker, Lewis C Becker, Eric Boerwinkle, Donald W Bowden, Ian J Deary, Abbas Dehghan, Stephan B Felix, Vilmundur Gudnason, Terho Lehtimäki, Rasika Mathias, Dennis O Mook-Kanamori, Bruce M Psaty, Daniel J Rader, Jerome I Rotter, James G Wilson, Cornelia M van Duijn, Henry Völzke, Sekar Kathiresan, Patricia A Peyser, Christopher J O'Donnell
BACKGROUND: -The burden of subclinical atherosclerosis in asymptomatic individuals is heritable and associated with elevated risk of developing clinical coronary heart disease (CHD). We sought to identify genetic variants in protein-coding regions associated with subclinical atherosclerosis and the risk of subsequent CHD. METHODS AND RESULTS: -We studied a total of 25,109 European ancestry and African-American participants with coronary artery calcification (CAC) measured by cardiac computed tomography and 52,869 with common carotid intima media thickness (CIMT) measured by ultrasonography within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium...
November 21, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27784735/homozygous-familial-hypercholesterolemia-in-spain-prevalence-and-phenotype-genotype-relationship
#5
Rosa M Sánchez-Hernández, Fernando Civeira, Marianne Stef, Sofía Perez-Calahorra, Fátima Almagro, Nuria Plana, Francisco J Novoa, Pedro Sáenz-Aranzubía, Daniel Mosquera, Cristina Soler, Francisco J Fuentes, Yeray Brito-Casillas, José T Real, Francisco Blanco-Vaca, Juan F Ascaso, Miguel Pocoví
BACKGROUND: -Homozygous familial hypercholesterolemia (HoFH) is a rare disease characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and extremely high risk of premature atherosclerotic cardiovascular disease (ASCVD). HoFH is caused by mutations in several genes, including LDL receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin type 9 (PCSK9), and LDL protein receptor adaptor 1 (LDLRAP1). No epidemiological studies have assessed HoFH prevalence, or the clinical and molecular characteristics of this condition...
October 26, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27784734/cardiovascular-risk-factors-associated-with-blood-metabolite-concentrations-and-their-alterations-over-a-4-year-period-in-a-population-based-cohort
#6
Maria Elena Lacruz, Alexander Kluttig, Daniel Tiller, Daniel Medenwald, Ina Giegling, Dan Rujescu, Cornelia Prehn, Jerzy Adamski, Stefan Frantz, Karin Halina Greiser, Rebecca Thwing Emeny, Gabi Kastenmüller, Johannes Haerting
BACKGROUND: -The effects of lifestyle risk-factors considered collectively on the human metabolism are so far unknown. We aim to investigate the association of these risk-factors with metabolites and their changes over 4 years. METHODS AND RESULTS: -163 metabolites were measured in serum samples with the AbsoluteIDQ kit p150 (Biocrates) following a targeted metabolomics approach, in a population-based cohort of 1030 individuals, aged 45-83 at baseline. We evaluated associations between metabolite concentrations (28 acylcarnitines, 14 amino acids, 9 lyso-phosphocholines, 72 phosphocholines, 10 sphingomyelins and sum of hexoses) and 5 lifestyle risk factors (BMI, alcohol consumption, smoking, diet and exercise)...
October 26, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27784733/comprehensive-analysis-of-established-dyslipidemia-associated-loci-in-the-diabetes-prevention-program
#7
Tibor V Varga, Alexandra H Winters, Kathleen A Jablonski, Edward S Horton, Prajakta Khare-Ranade, William C Knowler, Santica M Marcovina, Frida Renström, Karol E Watson, Ronald Goldberg, José C Florez, Toni I Pollin, Paul W Franks
BACKGROUND: -We assessed whether 234 established dyslipidemia-associated loci modify the effects of metformin treatment and lifestyle intervention (vs. placebo control) on lipid and lipid sub-fraction levels in the Diabetes Prevention Program (DPP) randomized controlled trial. METHODS AND RESULTS: -We tested gene-treatment interactions in relation to baseline adjusted follow-up blood lipid concentrations (high and low density lipoprotein cholesterol [HDL-C, LDL-C], total cholesterol, triglycerides) and lipoprotein sub-fraction particle concentrations and size in 2,993 participants with pre-diabetes...
October 26, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27780848/sucrose-non-fermenting-related-kinase-enzyme-mediated-rho-associated-kinase-signaling-is-responsible-for-cardiac-function
#8
Stephanie M Cossette, Vijesh J Bhute, Xiaoping Bao, Leanne M Harmann, Mark A Horswill, Indranil Sinha, Adam Gastonguay, Shabnam Pooya, Michelle Bordas, Suresh N Kumar, Shama P Mirza, Sean Palecek, Jennifer Strande, Ramani Ramchandran
BACKGROUND: -Cardiac metabolism is critical for the functioning of the heart, and disturbance in this homeostasis is likely to influence cardiac disorders or cardiomyopathy. Our lab has previously shown that sucrose non-fermenting related kinase (SNRK) enzyme, which belongs to the AMP-activated kinase (AMPK) family, was essential for cardiac metabolism in mammals. Snrk global homozygous knockout (KO) mice die at postnatal day 0, and conditional deletion of Snrk in cardiomyocytes (Snrk cmcKO) leads to cardiac failure, and death by 8-10 months...
October 25, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27780847/defining-a-contemporary-ischemic-heart-disease-genetic-risk-profile-using-historical-data
#9
Jonathan D Mosley, Sara L Van Driest, Quinn S Wells, Christian M Shaffer, Todd L Edwards, Lisa Bastarache, Catherine A McCarty, William Thompson, Christopher G Chute, Gail P Jarvik, David R Crosslin, Eric B Larson, Iftikhar J Kullo, Jennifer A Pacheco, Peggy L Peissig, Murray H Brilliant, James G Linneman, Joshua C Denny, Dan M Roden
BACKGROUND: -Continued reductions in morbidity and mortality attributable to ischemic heart disease (IHD) require an understanding of the changing epidemiology of this disease. We hypothesized that we could use genetic correlations, which quantitate the shared genetic architectures of phenotype pairs, and extant risk factors from a historical prospective study to define the risk profile of a contemporary IHD phenotype. METHODS AND RESULTS: -We used 37 phenotypes measured in the Atherosclerosis Risk in Communities (ARIC) study (n=7,716 European ancestry subjects) and clinical diagnoses from an electronic health record (EHR) data set (n=19,093)...
October 25, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27780846/clinical-utility-of-multi-marker-genetic-risk-scores-for-prediction-of-incident-coronary-heart-disease-a-cohort-study-among-over-51-thousand-individuals-of-european-ancestry
#10
Carlos Iribarren, Meng Lu, Eric Jorgenson, Manuel Martinez, Carla Lluís-Ganella, Isaac Subirana, Eduardo Salas, Roberto Elosua
BACKGROUND: -We evaluated whether including multi-locus genetic risk scores (GRS's) into the Framingham Risk Equation improves the predictive capacity, discrimination and reclassification of asymptomatic individuals with respect to coronary heart disease (CHD) risk. METHODS AND RESULTS: -We performed a cohort study among 51,954 European-ancestry members of a Northern California integrated health care system (67% female; mean age 59) free of CHD at baseline (2007-08)...
October 25, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27651445/scarb1-gene-variants-are-associated-with-the-phenotype-of-combined-high-hdl-c-and-high-lp-a
#11
Xiaoping Yang, Amar Sethi, Lisa R Yanek, Cathy Knapper, Børge G Nordestgaard, Anne Tybjærg-Hansen, Diane M Becker, Rasika A Mathias, Alan T Remaley, Lewis C Becker
BACKGROUND: -Scavenger receptor class B type 1 (SR-B1), encoded by the gene SCARB1, is a lipoprotein receptor which binds both high density and low density lipoproteins (HDL and LDLs). We reported that SR-B1 is also a receptor for lipoprotein (a) (Lp(a)), mediating cellular uptake of Lp(a) in vitro and promoting clearance of Lp(a) in vivo. Although genetic variants in SCARB1 are associated with variations in HDL level, no SCARB1 variants affecting Lp(a) have been reported. METHODS AND RESULTS: -In an index subject with high levels of HDL-C and Lp(a), SCARB1 was sequenced and demonstrated a missense mutation resulting in an S129L substitution in exon 3...
September 20, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27651444/epigenetic-signatures-of-cigarette-smoking
#12
Roby Joehanes, Allan C Just, Riccardo E Marioni, Luke C Pilling, Lindsay M Reynolds, Pooja R Mandaviya, Weihua Guan, Tao Xu, Cathy E Elks, Stella Aslibekyan, Hortensia Moreno-Macias, Jennifer A Smith, Jennifer A Brody, Radhika Dhingra, Paul Yousefi, James S Pankow, Sonja Kunze, Sonia Shah, Allan F McRae, Kurt Lohman, Jin Sha, Devin M Absher, Luigi Ferrucci, Wei Zhao, Ellen W Demerath, Jan Bressler, Megan L Grove, Tianxiao Huan, Chunyu Liu, Michael M Mendelson, Chen Yao, Douglas P Kiel, Annette Peters, Rui Wang-Sattler, Peter M Visscher, Naomi R Wray, John M Starr, Jingzhong Ding, Carlos J Rodriguez, Nicholas J Wareham, Marguerite R Irvin, Degui Zhi, Myrto Barrdahl, Paolo Vineis, Srikant Ambatipudi, André G Uitterlinden, Albert Hofman, Joel Schwartz, Elena Colicino, Lifang Hou, Pantel S Vokonas, Dena G Hernandez, Andrew B Singleton, Stefania Bandinelli, Stephen T Turner, Erin B Ware, Alicia K Smith, Torsten Klengel, Elisabeth B Binder, Bruce M Psaty, Kent D Taylor, Sina A Gharib, Brenton R Swenson, Liming Liang, Dawn L DeMeo, George T O'Connor, Zdenko Herceg, Kerry J Ressler, Karen N Conneely, Nona Sotoodehnia, Sharon L R Kardia, David Melzer, Andrea A Baccarelli, Joyce B J van Meurs, Isabelle Romieu, Donna K Arnett, Ken K Ong, Yongmei Liu, Melanie Waldenberger, Ian J Deary, Myriam Fornage, Daniel Levy, Stephanie J London
BACKGROUND: -DNA methylation leaves a long-term signature of smoking exposure and is one potential mechanism by which tobacco exposure predisposes to adverse health outcomes, such as cancers, osteoporosis, lung, and cardiovascular disorders. METHODS AND RESULTS: -To comprehensively determine the association between cigarette smoking and DNA methylation, we conducted a meta-analysis of genome-wide DNA methylation assessed using the Illumina BeadChip 450K array on 15,907 blood derived DNA samples from participants in 16 cohorts (including 2,433 current, 6,518 former, and 6,956 never smokers)...
September 20, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27625338/alternative-splicing-an-internal-promoter-nonsense-mediated-decay-or-all-three-explaining-the-distribution-of-truncation-variants-in-titin
#13
Rahul C Deo
BACKGROUND: -Truncating mutations in the giant sarcomeric gene Titin are the most common type of genetic alteration in dilated cardiomyopathy (DCM). Detailed studies have amassed a wealth of information regarding truncating variant position in cases and controls. Nonetheless, considerable confusion exists as to how to interpret the pathogenicity of these variants, hindering our ability to make useful recommendations to patients. METHODS AND RESULTS: -Building on our recent discovery of a conserved internal promoter within the Titin gene, we sought to develop an integrative statistical model to explain the observed pattern of TTN truncation variants in DCM patients and population controls...
September 13, 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27756780/wrestling-the-giant-new-approaches-for-assessing-titin-variant-pathogenicity
#14
Emmi Helle, Victoria N Parikh
No abstract text is available yet for this article.
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27756779/of-caps-and-gaps-postnatal-hearts-elusive-facts-and-lncs
#15
Scot J Matkovich
No abstract text is available yet for this article.
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27672144/enhancing-literacy-in-cardiovascular-genetics-a-scientific-statement-from-the-american-heart-association
#16
Seema Mital, Kiran Musunuru, Vidu Garg, Mark W Russell, David E Lanfear, Rajat M Gupta, Kathleen T Hickey, Michael J Ackerman, Marco V Perez, Dan M Roden, Daniel Woo, Caroline S Fox, Stephanie Ware
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged...
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27625337/combination-of-whole-genome-sequencing-linkage-and-functional-studies-implicates-a-missense-mutation-in-titin-as-a-cause-of-autosomal-dominant-cardiomyopathy-with-features-of-left-ventricular-noncompaction
#17
Robert Hastings, Carin P de Villiers, Charlotte Hooper, Liz Ormondroyd, Alistair Pagnamenta, Stefano Lise, Silvia Salatino, Samantha J L Knight, Jenny C Taylor, Kate L Thomson, Linda Arnold, Spyros D Chatziefthimiou, Petr V Konarev, Matthias Wilmanns, Elisabeth Ehler, Andrea Ghisleni, Mathias Gautel, Edward Blair, Hugh Watkins, Katja Gehmlich
BACKGROUND: High throughput next-generation sequencing techniques have made whole genome sequencing accessible in clinical practice; however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging. METHODS AND RESULTS: Here we combine whole genome sequencing with linkage analysis in a 3-generation family affected by cardiomyopathy with features of autosomal dominant left ventricular noncompaction cardiomyopathy...
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27591185/decoding-the-long-noncoding-rna-during-cardiac-maturation-a-roadmap-for-functional-discovery
#18
Marlin Touma, Xuedong Kang, Yan Zhao, Ashley A Cass, Fuying Gao, Reshma Biniwale, Giovanni Coppola, Xinshu Xiao, Brian Reemtsen, Yibin Wang
BACKGROUND: Cardiac maturation during perinatal transition of heart is critical for functional adaptation to hemodynamic load and nutrient environment. Perturbation in this process has major implications in congenital heart defects. Transcriptome programming during perinatal stages is an important information but incomplete in current literature, particularly, the expression profiles of the long noncoding RNAs (lncRNAs) are not fully elucidated. METHODS AND RESULTS: From comprehensive analysis of transcriptomes derived from neonatal mouse heart left and right ventricles, a total of 45 167 unique transcripts were identified, including 21 916 known and 2033 novel lncRNAs...
October 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27531918/functional-promoter-variant-in-desmocollin-2-contributes-to-arrhythmogenic-right-ventricular-cardiomyopathy
#19
Alex Hørby Christensen, Boris Schmitz, Claus B Andersen, Henning Bundgaard, Stefan-Martin Brand, Jesper Hastrup Svendsen
No abstract text is available yet for this article.
August 2016: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/27531917/genetic-modifiers-for-the-long-qt-syndrome-how-important-is-the-role-of-variants-in-the-3-untranslated-region-of-kcnq1
#20
Lia Crotti, Annukka M Lahtinen, Carla Spazzolini, Elisa Mastantuono, Maria Cristina Monti, Caterina Morassutto, Gianfranco Parati, Marshall Heradien, Althea Goosen, Peter Lichtner, Thomas Meitinger, Paul A Brink, Kimmo Kontula, Heikki Swan, Peter J Schwartz
BACKGROUND: Long-QT syndrome is an inherited cardiac channelopathy characterized by delayed repolarization, risk of life-threatening arrhythmia, and significant clinical variability even within families. Three single-nucleotide polymorphisms (SNPs) in the 3' untranslated region of KCNQ1 were recently suggested to be associated with suppressed gene expression and hence decreased disease severity when located on the same haplotype with a disease-causing KCNQ1 mutation. We sought to replicate this finding in a larger and a genetically more homogeneous population of KCNQ1 mutation carriers...
August 2016: Circulation. Cardiovascular Genetics
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