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Circulation. Cardiovascular Genetics

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https://www.readbyqxmd.com/read/29247120/surviving-sudden-death-where-does-next-generation-sequencing-fit-in-the-assessment-of-sudden-death-victims-and-their-families
#1
EDITORIAL
Robert M Hamilton, Kristopher S Cunningham, Elijah R Behr
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29247119/applying-high-resolution-variant-classification-to-cardiac-arrhythmogenic-gene-testing-in-a-demographically-diverse-cohort-of-sudden-unexplained-deaths
#2
Ying Lin, Nori Williams, Dawei Wang, William Coetzee, Bo Zhou, Lucy S Eng, Sung Yon Um, Ruijun Bao, Orrin Devinsky, Thomas V McDonald, Barbara A Sampson, Yingying Tang
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demographically diverse sudden unexplained death cohort that underwent thorough investigation in the United States' largest medical examiner's office...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29242202/calcific-aortic-valve-disease-insights-into-the-genetics-of-vascular-ageing
#3
EDITORIAL
Richmond W Jeremy
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29242201/familial-aggregation-of-aortic-valvular-stenosis-a-nationwide-study-of-sibling-risk
#4
Andreas Martinsson, Xinjun Li, Bengt Zöller, Pontus Andell, Charlotte Andersson, Kristina Sundquist, J Gustav Smith
BACKGROUND: Aortic valvular stenosis (AS) is the most common cause of cardiac valvular replacement surgery. During the last century, the pathogenesis of AS has undergone transitions in developed countries, from rheumatic heart disease to a degenerative calcific pathogenesis. Although a familial component has been described for a subset of cases with a bicuspid valve, data are limited on the overall familial aggregation of this disease. METHODS AND RESULTS: Contemporary information on 6 117 263 Swedish siblings, of which 13 442 had a clinical diagnosis of AS, was collected from the nationwide Swedish Multi-Generation Register and the National Patient Register...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237696/searching-for-the-causal-variants-of-the-association-between-hypertriglyceridemia-and-the-genome-wide-association-studies-derived-signals-take-a-look-in-the-native-american-populations
#5
EDITORIAL
Carlos A Aguilar-Salinas, Magdalena Del Rocío Sevilla González, María Teresa Tusie-Luna
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237695/genes-in-the-basement-postmortem-genetic-testing%C3%A2-and-3-new-realities
#6
EDITORIAL
Michael A Seidman, Richard N Mitchell
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237694/genome-wide-association-studies-revealing-the-heritability-of-common-atrial-fibrillation-is-bigger-always-better
#7
EDITORIAL
Sebastian Clauss, Moritz F Sinner, Stefan Kääb
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237693/lamin-a-c-cardiomyopathy-cutting-edge-to-personalized-medicine
#8
EDITORIAL
Gianfranco Sinagra, Matteo Dal Ferro, Marco Merlo
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237692/does-computer-simulation-help-facilitate-personalized-precision-medicine-for-the-use-of-warfarin
#9
EDITORIAL
Shinichi Goto, Shinya Goto
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237691/four-generation-family-with-ebstein-anomaly-highlights-future-challenges-in-congenital-heart-disease-genetics
#10
EDITORIAL
David S Winlaw, Sally L Dunwoodie, Edwin P Kirk
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237690/analysis-of-60%C3%A2-706-exomes-questions-the-role-of-de-novo-variants-previously-implicated-in-cardiac-disease
#11
Christian Paludan-Müller, Gustav Ahlberg, Jonas Ghouse, Jesper H Svendsen, Stig Haunsø, Morten S Olesen
BACKGROUND: De novo variants in the exome occur at a rate of 1 per individual per generation, and because of the low reproductive fitness for de novo variants causing severe disease, the likelihood of finding these as standing variations in the general population is low. Therefore, this study sought to evaluate the pathogenicity of de novo variants previously associated with cardiac disease based on a large population-representative exome database. METHODS AND RESULTS: We performed a literature search for previous publications on de novo variants associated with severe arrhythmias and structural heart diseases and investigated whether these variants were present in the Exome Aggregation Consortium (ExAC) database (n=60 706)...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237689/technical-advances-for-the-clinical-genomic-evaluation-of-sudden-cardiac-death-verification-of-next-generation-sequencing-panels-for-hereditary-cardiovascular-conditions-using-formalin-fixed-paraffin-embedded-tissues-and-dried-blood-spots
#12
Linnea M Baudhuin, Charles Leduc, Laura J Train, Rajeswari Avula, Michelle L Kluge, Katrina E Kotzer, Peter T Lin, Michael J Ackerman, Joseph J Maleszewski
BACKGROUND: Postmortem genetic testing for heritable cardiovascular (CV) disorders is often lacking because ideal specimens (ie, whole blood) are not retained routinely at autopsy. Formalin-fixed paraffin-embedded tissue (FFPET) is ubiquitously collected at autopsy, but DNA quality hampers its use with traditional sequencing methods. Targeted next-generation sequencing may offer the ability to circumvent such limitations, but a method has not been previously described. The primary aim of this study was to develop and evaluate the use of FFPET for heritable CV disorders via next-generation sequencing...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237688/heritability-of-atrial-fibrillation
#13
Lu-Chen Weng, Seung Hoan Choi, Derek Klarin, J Gustav Smith, Po-Ru Loh, Mark Chaffin, Carolina Roselli, Olivia L Hulme, Kathryn L Lunetta, Josée Dupuis, Emelia J Benjamin, Christopher Newton-Cheh, Sekar Kathiresan, Patrick T Ellinor, Steven A Lubitz
BACKGROUND: Previous reports have implicated multiple genetic loci associated with AF, but the contributions of genome-wide variation to AF susceptibility have not been quantified. METHODS AND RESULTS: We assessed the contribution of genome-wide single-nucleotide polymorphism variation to AF risk (single-nucleotide polymorphism heritability, h2g ) using data from 120 286 unrelated individuals of European ancestry (2987 with AF) in the population-based UK Biobank...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237687/metabolic-profiling-of-adiponectin-levels-in-adults-mendelian-randomization-analysis
#14
Maria Carolina Borges, Aluísio J D Barros, Diana L Santos Ferreira, Juan Pablo Casas, Bernardo Lessa Horta, Mika Kivimaki, Meena Kumari, Usha Menon, Tom R Gaunt, Yoav Ben-Shlomo, Deise F Freitas, Isabel O Oliveira, Aleksandra Gentry-Maharaj, Evangelia Fourkala, Debbie A Lawlor, Aroon D Hingorani
BACKGROUND: Adiponectin, a circulating adipocyte-derived protein, has insulin-sensitizing, anti-inflammatory, antiatherogenic, and cardiomyocyte-protective properties in animal models. However, the systemic effects of adiponectin in humans are unknown. Our aims were to define the metabolic profile associated with higher blood adiponectin concentration and investigate whether variation in adiponectin concentration affects the systemic metabolic profile. METHODS AND RESULTS: We applied multivariable regression in ≤5909 adults and Mendelian randomization (using cis-acting genetic variants in the vicinity of the adiponectin gene as instrumental variables) for analyzing the causal effect of adiponectin in the metabolic profile of ≤37 545 adults...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237686/toward-genetics-driven-early-intervention-in-dilated-cardiomyopathy-design-and-implementation-of-the-dcm-precision-medicine-study
#15
REVIEW
Daniel D Kinnamon, Ana Morales, Deborah J Bowen, Wylie Burke, Ray E Hershberger
BACKGROUND: The cause of idiopathic dilated cardiomyopathy (DCM) is unknown by definition, but its familial subtype is considered to have a genetic component. We hypothesize that most idiopathic DCM, whether familial or nonfamilial, has a genetic basis, in which case a genetics-driven approach to identifying at-risk family members for clinical screening and early intervention could reduce morbidity and mortality. METHODS: On the basis of this hypothesis, we have launched the National Heart, Lung, and Blood Institute- and National Human Genome Research Institute-funded DCM Precision Medicine Study, which aims to enroll 1300 individuals (600 non-Hispanic African ancestry, 600 non-Hispanic European ancestry, and 100 Hispanic) who meet rigorous clinical criteria for idiopathic DCM along with 2600 of their relatives...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237685/identity-by-descent-mapping-identifies-major-locus-for-serum-triglycerides-in-amerindians-largely-explained-by-an-apoc3-founder-mutation
#16
Wen-Chi Hsueh, Anup K Nair, Sayuko Kobes, Peng Chen, Harald H H Göring, Toni I Pollin, Alka Malhotra, William C Knowler, Leslie J Baier, Robert L Hanson
BACKGROUND: Identity-by-descent mapping using empirical estimates of identity-by-descent allele sharing may be useful for studies of complex traits in founder populations, where hidden relationships may augment the inherent genetic information that can be used for localization. METHODS AND RESULTS: Through identity-by-descent mapping, using ≈400 000 single-nucleotide polymorphisms (SNPs), of serum lipid profiles, we identified a major linkage signal for triglycerides in 1007 Pima Indians (LOD=9...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237684/harnessing-the-power-of-pharmacometabolomics-the-metabolic-footprint-of-statins
#17
EDITORIAL
Jennifer E Ho
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237683/pathogenicity-of-de-novo-rare-variants-challenges-and-opportunities
#18
EDITORIAL
Arya Mani
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237682/news-from-the-heart-natriuretic-system
#19
EDITORIAL
Ines Armando
No abstract text is available yet for this article.
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237681/plasma-proteomics-for-epidemiology-increasing-throughput-with-standard-flow-rates
#20
Xiaoke Yin, Ferheen Baig, Eloi Haudebourg, Richard T Blankley, Tejas Gandhi, Sebastian Müller, Lukas Reiter, Helmut Hinterwirth, Raimund Pechlaner, Sotirios Tsimikas, Peter Santer, Johann Willeit, Stefan Kiechl, Joseph L Witztum, Anthony Sullivan, Manuel Mayr
BACKGROUND: Mass spectrometry is selective and sensitive, permitting routine quantification of multiple plasma proteins. However, commonly used nanoflow liquid chromatography (LC) approaches hamper sample throughput, reproducibility, and robustness. For this reason, most publications using plasma proteomics to date are small in study size. METHODS AND RESULTS: Here, we tested a standard-flow LC mass spectrometry (MS) method using multiple reaction monitoring for the application to large epidemiological cohorts...
December 2017: Circulation. Cardiovascular Genetics
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