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Circulation. Cardiovascular Genetics

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https://www.readbyqxmd.com/read/28420667/are-double-mutations-double-trouble
#1
EDITORIAL
Diane Fatkin, Renee Johnson
No abstract text is available yet for this article.
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28420666/prevalence-and-clinical-implication-of-double-mutations-in-hypertrophic-cardiomyopathy-revisiting-the-gene-dose-effect
#2
Dana Fourey, Melanie Care, Katherine A Siminovitch, Adaya Weissler-Snir, Waseem Hindieh, Raymond H Chan, Michael H Gollob, Harry Rakowski, Arnon Adler
BACKGROUND: Available data suggests that double mutations in patients with hypertrophic cardiomyopathy are not rare and are associated with a more severe phenotype. Most of this data, however, is based on noncontemporary variant classification. METHODS AND RESULTS: Clinical data of all hypertrophic cardiomyopathy patients with 2 rare genetic variants were retrospectively reviewed and compared with a group of patients with a single disease-causing variant. Furthermore, a literature search was performed for all studies with information on prevalence and outcome of patients with double mutations...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28420665/correction
#3
(no author information available yet)
No abstract text is available yet for this article.
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28416512/investigating-the-genetic-architecture-of-the-pr-interval-using-clinical-phenotypes
#4
Jonathan D Mosley, M Benjamin Shoemaker, Quinn S Wells, Dawood Darbar, Christian M Shaffer, Todd L Edwards, Lisa Bastarache, Catherine A McCarty, Will 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, John S Witte, Josh C Denny, Dan M Roden
BACKGROUND: One potential use for the PR interval is as a biomarker of disease risk. We hypothesized that quantifying the shared genetic architectures of the PR interval and a set of clinical phenotypes would identify genetic mechanisms contributing to PR variability and identify diseases associated with a genetic predictor of PR variability. METHODS AND RESULTS: We used ECG measurements from the ARIC study (Atherosclerosis Risk in Communities; n=6731 subjects) and 63 genetically modulated diseases from the eMERGE network (Electronic Medical Records and Genomics; n=12 978)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28411192/socioeconomic-status-interacts-with-the-genetic-effect-of-a-chromosome-9p21-3-common-variant-to-influence-coronary-artery-calcification-and-incident-coronary-events-in-the-heinz-nixdorf-recall-study-risk-factors-evaluation-of-coronary-calcium-and-lifestyle
#5
Börge Schmidt, Stefanie Frölich, Nico Dragano, Mirjam Frank, Lewin Eisele, Sonali Pechlivanis, Andreas J Forstner, Markus M Nöthen, Amir A Mahabadi, Raimund Erbel, Susanne Moebus, Karl-Heinz Jöckel
BACKGROUND: Genetic variants of a locus within the chromosome 9p21.3 region are consistently associated with coronary artery disease and coronary artery calcification (CAC). The aim of this study was to examine whether a 9p21.3 common variant interacts with socioeconomic status (SES) to influence CAC and incident coronary events in a population-based cohort. METHODS AND RESULTS: 9p21.3 single nucleotide polymorphism rs2891168 was genotyped in 4116 participants of the Heinz Nixdorf Recall study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28411191/delivering-clinical-grade-sequencing-and-genetic-test-interpretation-for-cardiovascular-medicine
#6
Andrew R Harper, Victoria N Parikh, Rachel L Goldfeder, Colleen Caleshu, Euan A Ashley
No abstract text is available yet for this article.
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28408710/local-ancestry-association-admixture-mapping-and-ongoing-challenges
#7
EDITORIAL
Arya Mani
No abstract text is available yet for this article.
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28408709/heritability-of-the-severity-of-the-metabolic-syndrome-in-whites-and-blacks-in-3-large-cohorts
#8
Solomon K Musani, Lisa J Martin, Jessica G Woo, Michael Olivier, Matthew J Gurka, Mark D DeBoer
BACKGROUND: Although dichotomous criteria for the metabolic syndrome (MetS) appear heritable, it is not known whether MetS severity as assessed by a continuous MetS score is heritable and whether this varies by race. METHODS AND RESULTS: We used SOLAR (Sequential Oligogenic Linkage Analysis Routines) to evaluate heritability of Adult Treatment Panel-III MetS and a sex- and race-specific MetS severity Z score among 3 large familial cohorts: the JHS (Jackson Heart Study, 1404 black participants), TOPS (Take Off Pounds Sensibly, 1947 white participants), and PLRS (Princeton Lipid Research Study, 229 black and 527 white participants)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28408708/nonfamilial-hypertrophic-cardiomyopathy-prevalence-natural-history-and-clinical-implications
#9
Jodie Ingles, Charlotte Burns, Richard D Bagnall, Lien Lam, Laura Yeates, Tanya Sarina, Rajesh Puranik, Tom Briffa, John J Atherton, Tim Driscoll, Christopher Semsarian
BACKGROUND: Yield of causative variants in hypertrophic cardiomyopathy (HCM) is increased in some probands, suggesting different clinical subgroups of disease occur. We hypothesized that a negative family history and no sarcomere mutations represent a nonfamilial subgroup of HCM. We sought to determine the prevalence, natural history, and potential clinical implications of this nonfamilial subgroup of HCM. METHODS AND RESULTS: Four hundred and thirteen unrelated probands with HCM seen in a specialized HCM center between 2002 and 2015 and genetic testing performed were included in this retrospective cohort study...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28408707/admixture-mapping-of-subclinical-atherosclerosis-and-subsequent-clinical-events-among-african-americans-in-2-large-cohort-studies
#10
Aditi Shendre, Howard Wiener, Marguerite R Irvin, Degui Zhi, Nita A Limdi, Edgar T Overton, Christina L Wassel, Jasmin Divers, Jerome I Rotter, Wendy S Post, Sadeep Shrestha
BACKGROUND: Local ancestry may contribute to the disproportionate burden of subclinical and clinical cardiovascular disease among admixed African Americans compared with other populations, suggesting a rationale for admixture mapping. METHODS AND RESULTS: We estimated local European ancestry (LEA) using Local Ancestry inference in adMixed Populations using Linkage Disequilibrium method (LAMP-LD) and evaluated the association with common carotid artery intima-media thickness (cCIMT) using multivariable linear regression analysis among 1554 African Americans from MESA (Multi-Ethnic Study of Atherosclerosis)...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28373160/genetic-analysis-of-venous-thromboembolism-in-uk-biobank-identifies-the-zfpm2-locus-and-implicates-obesity-as-a-causal-risk-factor
#11
Derek Klarin, Connor A Emdin, Pradeep Natarajan, Mark F Conrad, Sekar Kathiresan
BACKGROUND: UK Biobank is the world's largest repository for phenotypic and genotypic information for individuals of European ancestry. Here, we leverage UK Biobank to understand the inherited basis for venous thromboembolism (VTE), a leading cause of cardiovascular mortality. METHODS AND RESULTS: We identified 3290 VTE cases and 116 868 controls through billing code-based phenotyping. We performed a genome-wide association study for VTE with ≈9 000 000 imputed single-nucleotide polymorphisms...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28360086/potential-impact-and-study-considerations-of-metabolomics-in-cardiovascular-health-and-disease-a-scientific-statement-from-the-american-heart-association
#12
REVIEW
Susan Cheng, Svati H Shah, Elizabeth J Corwin, Oliver Fiehn, Robert L Fitzgerald, Robert E Gerszten, Thomas Illig, Eugene P Rhee, Pothur R Srinivas, Thomas J Wang, Mohit Jain
Through the measure of thousands of small-molecule metabolites in diverse biological systems, metabolomics now offers the potential for new insights into the factors that contribute to complex human diseases such as cardiovascular disease. Targeted metabolomics methods have already identified new molecular markers and metabolomic signatures of cardiovascular disease risk (including branched-chain amino acids, select unsaturated lipid species, and trimethylamine-N-oxide), thus in effect linking diverse exposures such as those from dietary intake and the microbiota with cardiometabolic traits...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28356264/screening-of-the-filamin-c-gene-in-a-large-cohort-of-hypertrophic-cardiomyopathy-patients
#13
Juan Gómez, Rebeca Lorca, Julian R Reguero, César Morís, María Martín, Salvador Tranche, Belén Alonso, Sara Iglesias, Victoria Alvarez, Beatriz Díaz-Molina, Pablo Avanzas, Eliecer Coto
BACKGROUND: Recent exome sequencing studies identified filamin C (FLNC) as a candidate gene for hypertrophic cardiomyopathy (HCM). Our aim was to determine the rate of FLNC candidate variants in a large cohort of HCM patients who were also sequenced for the main sarcomere genes. METHODS AND RESULTS: A total of 448 HCM patients were next generation-sequenced (semiconductor chip technology) for the MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1, and FLNC genes...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28348047/genome-wide-association-study-meta-analysis-of-long-term-average-blood-pressure-in-east-asians
#14
Changwei Li, Yun Kyoung Kim, Rajkumar Dorajoo, Huaixing Li, I-Te Lee, Ching-Yu Cheng, Meian He, Wayne H-H Sheu, Xiuqing Guo, Santhi K Ganesh, Jiang He, Juyoung Lee, Jianjun Liu, Yao Hu, Dabeeru C Rao, Fuu-Jen Tsai, Jia Yu Koh, Hua Hu, Kae-Woei Liang, Walter Palmas, James E Hixson, Sohee Han, Yik-Ying Teo, Yiqin Wang, Jing Chen, Chieh Hsiang Lu, Yingfeng Zheng, Lixuan Gui, Wen-Jane Lee, Jie Yao, Dongfeng Gu, Bok-Ghee Han, Xueling Sim, Liang Sun, Jinying Zhao, Chien-Hsiun Chen, Neelam Kumari, Yunfeng He, Kent D Taylor, Leslie J Raffel, Sanghoon Moon, Jerome I Rotter, Yii-der Ida Chen, Tangchun Wu, Tien Yin Wong, Jer-Yuarn Wu, Xu Lin, E-Shyong Tai, Bong-Jo Kim, Tanika N Kelly
BACKGROUND: Genome-wide single marker and gene-based meta-analyses of long-term average (LTA) blood pressure (BP) phenotypes may reveal novel findings for BP. METHODS AND RESULTS: We conducted genome-wide analysis among 18 422 East Asian participants (stage 1) followed by replication study of ≤46 629 participants of European ancestry (stage 2). Significant single-nucleotide polymorphisms and genes were determined by a P<5.0×10(-8) and 2.5×10(-)(6), respectively, in joint analyses of stage-1 and stage-2 data...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28320757/additional-candidate-genes-for-human-atherosclerotic-disease-identified-through-annotation-based-on-chromatin-organization
#15
Saskia Haitjema, Claartje A Meddens, Sander W van der Laan, Daniel Kofink, Magdalena Harakalova, Vinicius Tragante, Hassan Foroughi Asl, Jessica van Setten, Maarten M Brandt, Joshua C Bis, Christopher O'Donnell, Caroline Cheng, Imo E Hoefer, Johannes Waltenberger, Erik Biessen, J Wouter Jukema, Pieter A F M Doevendans, Edward E S Nieuwenhuis, Jeanette Erdmann, Johan L M Björkegren, Gerard Pasterkamp, Folkert W Asselbergs, Hester M den Ruijter, Michal Mokry
BACKGROUND: As genome-wide association efforts, such as CARDIoGRAM and METASTROKE, are ongoing to reveal susceptibility loci for their underlying disease-atherosclerotic disease-identification of candidate genes explaining the associations of these loci has proven the main challenge. Many disease susceptibility loci colocalize with DNA regulatory elements, which influence gene expression through chromatin interactions. Therefore, the target genes of these regulatory elements can be considered candidate genes...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28280076/identification-of-cadherin-2-cdh2-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy
#16
Bongani M Mayosi, Maryam Fish, Gasnat Shaboodien, Elisa Mastantuono, Sarah Kraus, Thomas Wieland, Maria-Christina Kotta, Ashley Chin, Nakita Laing, Ntobeko B A Ntusi, Michael Chong, Christopher Horsfall, Simon N Pimstone, Davide Gentilini, Gianfranco Parati, Tim-Matthias Strom, Thomas Meitinger, Guillaume Pare, Peter J Schwartz, Lia Crotti
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families. METHODS AND RESULTS: Whole exome sequencing was performed on 2 cousins with ARVC. Validation of 13 heterozygous variants that survived internal quality and frequency filters was performed by Sanger sequencing...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28100627/inflammatory-biomarkers-predict-heart-failure-severity-and-prognosis-in-patients-with-heart-failure-with-preserved-ejection-fraction-a-holistic-proteomic-approach
#17
Camilla Hage, Erik Michaëlsson, Cecilia Linde, Erwan Donal, Jean-Claude Daubert, Li-Ming Gan, Lars H Lund
BACKGROUND: Underlying mechanisms in heart failure (HF) with preserved ejection fraction remain unknown. We investigated cardiovascular plasma biomarkers in HF with preserved ejection fraction and their correlation to diastolic dysfunction, functional class, pathophysiological processes, and prognosis. METHODS AND RESULTS: In 86 stable patients with HF and EF ≥45% in the Karolinska Rennes (KaRen) biomarker substudy, biomarkers were quantified by a multiplex immunoassay...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28100626/effect-of-metformin-on-metabolites-and-relation-with-myocardial-infarct-size-and-left-ventricular-ejection-fraction-after-myocardial-infarction
#18
Ruben N Eppinga, Daniel Kofink, Robin P F Dullaart, Geertje W Dalmeijer, Erik Lipsic, Dirk J van Veldhuisen, Iwan C C van der Horst, Folkert W Asselbergs, Pim van der Harst
BACKGROUND: Left ventricular ejection fraction (LVEF) and infarct size (ISZ) are key predictors of long-term survival after myocardial infarction (MI). However, little is known about the biochemical pathways driving LV dysfunction after MI. To identify novel biomarkers predicting post-MI LVEF and ISZ, we performed metabolic profiling in the GIPS-III randomized clinical trial (Glycometabolic Intervention as Adjunct to Primary Percutaneous Intervention in ST Elevation Myocardial Infarction)...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28087566/application-of-whole-exome-sequencing-in-the-clinical-diagnosis-and-management-of-inherited-cardiovascular-diseases-in-adults
#19
Sara B Seidelmann, Emily Smith, Lakshman Subrahmanyan, Daniel Dykas, Maen D Abou Ziki, Bani Azari, Fady Hannah-Shmouni, Yuexin Jiang, Joseph G Akar, Mark Marieb, Daniel Jacoby, Allen E Bale, Richard P Lifton, Arya Mani
BACKGROUND: With the advent of high throughput sequencing, the identification of genetic causes of cardiovascular disease (CVD) has become an integral part of medical diagnosis and management and at the forefront of personalized medicine in this field. The use of whole exome sequencing for clinical diagnosis, risk stratification, and management of inherited CVD has not been previously evaluated. METHODS AND RESULTS: We analyzed the results of whole exome sequencing in first 200 adult patients with inherited CVD, who underwent genetic testing at the Yale Program for Cardiovascular Genetics...
February 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28077433/osteoprotegerin-disruption-attenuates-hysu-induced-pulmonary-hypertension-through-integrin-%C3%AE-v%C3%AE-3-fak-akt-pathway-suppression
#20
Daile Jia, Qian Zhu, Huan Liu, Caojian Zuo, Yuhu He, Guilin Chen, Ankang Lu
BACKGROUND: Pulmonary arterial remodeling characterized by increased vascular smooth muscle proliferation is commonly seen in life-threatening disease, pulmonary arterial hypertension (PAH). Clinical studies have suggested a correlation between osteoprotegerin serum levels and PAH severity. Here, we aimed to invhestigate vascular osteoprotegerin expression and its effects on pulmonary arterial smooth muscle cell proliferation in vitro and in vivo, as well as examine the signal transduction pathways mediating its activity...
February 2017: Circulation. Cardiovascular Genetics
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