In This Issue: February [In This Issue: February]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 20, 2018 Category: Cardiology Tags: In This Issue: February Source Type: research

Is Careful Assessment of Rare Variants in the RYR2 Gene Piercing the Guidelines Strong Armor? [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 16, 2018 Category: Cardiology Authors: Schwartz, P. J., Kotta, M.-C. Tags: Arrhythmias, Sudden Cardiac Death, Genetics, Electrocardiology (ECG), Statements and Guidelines Editorial Source Type: research

BCL2L11 Is Associated With Kawasaki Disease in Intravenous Immunoglobulin Responder Patients [Research Letter]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 16, 2018 Category: Cardiology Authors: Kwon, Y.-C., Kim, J.-J., Yun, S. W., Yu, J. J., Yoon, K. L., Lee, K.-Y., Kil, H.-R., Kim, G. B., Han, M.-K., Song, M. S., Lee, H. D., Ha, K. S., Sohn, S., Hong, Y. M., Jang, G. Y., Lee, J.-K., on behalf of the Korean Kawasaki Disease Genetics Consortium Tags: Inflammation, Pediatrics, Genetic, Association Studies, Coronary Artery Disease Research Letter Source Type: research

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation [Original Articles]
Conclusions: Current expert recommendations have resulted in increased use of RYR2 genetic testing in patients with questionable clinical phenotypes. Using the largest to date catecholaminergic polymorphic ventricular tachycardia patient versus control comparison, this study highlights important variables in the interpretation of variants to overcome the 3.2% background rate that confounds RYR2 variant interpretation. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 16, 2018 Category: Cardiology Authors: Kapplinger, J. D., Pundi, K. N., Larson, N. B., Callis, T. E., Tester, D. J., Bikker, H., Wilde, A. A. M., Ackerman, M. J. Tags: Arrhythmias, Sudden Cardiac Death, Genetics Original Articles Source Type: research

Therapeutic Lowering of Lipoprotein(a): A Role for Pharmacogenetics? [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 15, 2018 Category: Cardiology Authors: Boffa, M. B., Koschinsky, M. L. Tags: Clinical Studies, Lipids and Cholesterol, Cardiovascular Disease, Risk Factors, Genetics Editorial Source Type: research

Impact of Apolipoprotein(a) Isoform Size on Lipoprotein(a) Lowering in the HPS2-THRIVE Study [Original Articles]
Conclusions: Proportional reductions in Lp(a) were dependent on apolipoprotein(a) isoform size. Taking this into account, the likely benefits of niacin–laropiprant on coronary risk through Lp(a) lowering are small. Novel therapies that reduce high Lp(a) levels by at least 80 nmol/L (40%) may be needed to produce worthwhile benefits in people at the highest risk because of Lp(a). Clinical Trial Registration: URL: https://clinicaltrials.gov. Unique identifier: NCT00461630. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 15, 2018 Category: Cardiology Authors: Parish, S., Hopewell, J. C., Hill, M. R., Marcovina, S., Valdes-Marquez, E., Haynes, R., Offer, A., Pedersen, T. R., Baigent, C., Collins, R., Landray, M., Armitage, J., on behalf of the HPS2-THRIVE Collaborative Group Tags: Lipids and Cholesterol, Cardiovascular Disease, Genetics, Treatment Original Articles Source Type: research

Partitioning the Pleiotropy Between Coronary Artery Disease and Body Mass Index Reveals the Importance of Low Frequency Variants and Central Nervous System-Specific Functional Elements [Original Articles]
Conclusions: Genome-wide pleiotropy substantially contributes to co-occurrence of CAD and obesity, and it is highly enriched among low frequency variants and central nervous system–specific functional elements. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 14, 2018 Category: Cardiology Authors: Nikpay, M., Turner, A. W., McPherson, R. Tags: Obesity, Genetics, Coronary Artery Disease Original Articles Source Type: research

Improving Interpretation of Cardiac Phenotypes and Enhancing Discovery With Expanded Knowledge in the Gene Ontology [Original Articles]
Conclusions: We determined that a combination of curation and ontology development for heart-specific genes and processes supports the identification and downstream analysis of genes responsible for the spread of the cardiac action potential through the heart. Annotating these genes and processes in a structured format facilitates data analysis and supports effective retrieval of gene-centric information about cardiac defects. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 13, 2018 Category: Cardiology Authors: Lovering, R. C., Roncaglia, P., Howe, D. G., Laulederkind, S. J. F., Khodiyar, V. K., Berardini, T. Z., Tweedie, S., Foulger, R. E., Osumi-Sutherland, D., Campbell, N. H., Huntley, R. P., Talmud, P. J., Blake, J. A., Breckenridge, R., Riley, P. R., Lambia Tags: Arrhythmias, Electrophysiology, Functional Genomics Original Articles Source Type: research

Phenotypic Spectrum of HCN4 Mutations: A Clinical Case [Clinical Vignettes]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 12, 2018 Category: Cardiology Authors: Servatius, H., Porro, A., Pless, S. A., Schaller, A., Asatryan, B., Tanner, H., de Marchi, S. F., Roten, L., Seiler, J., Haeberlin, A., Baldinger, S. H., Noti, F., Lam, A., Fuhrer, J., Moroni, A., Medeiros-Domingo, A. Tags: Arrhythmias, Ventricular Fibrillation, Ion Channels/Membrane Transport, Gene Expression & Regulation Clinical Vignettes Source Type: research

Revealing Pathways of Cardiac Regeneration [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 1, 2018 Category: Cardiology Authors: Bassaneze, V., Lee, R. T. Tags: Myocardial Biology, Myocardial Regeneration, Gene Expression & Regulation, Heart Failure, Myocardial Infarction Editorial Source Type: research

Unraveling the Genetic Basis of Recurrent Venous Thromboembolism [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 1, 2018 Category: Cardiology Authors: Voora, D., Becker, R. C. Tags: Editorial Source Type: research

Genome-Wide Association Study Identifies a Novel Genetic Risk Factor for Recurrent Venous Thrombosis [Original Articles]
Conclusions: We confirmed the association of factor V Leiden and identified a novel risk locus at 18q22.1 in the first large genetic study on recurrent VT. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 1, 2018 Category: Cardiology Authors: de Haan, H. G., van Hylckama Vlieg, A., Germain, M., Baglin, T. P., Deleuze, J.-F., Tregouet, D.-A., Rosendaal, F. R. Tags: Risk Factors, Genetic, Association Studies, Genetics, Thrombosis Original Articles Source Type: research

Functionally Conserved Noncoding Regulators of Cardiomyocyte Proliferation and Regeneration in Mouse and Human [Original Articles]
Conclusions: The sets of messenger RNAs, miRNAs, and long noncoding RNAs that we report here merit further investigation as gatekeepers of cell division in the postnatal heart and as targets for extension of the period of cardiac regeneration beyond the neonatal period. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - February 1, 2018 Category: Cardiology Authors: Adamowicz, M., Morgan, C. C., Haubner, B. J., Noseda, M., Collins, M. J., Abreu Paiva, M., Srivastava, P. K., Gellert, P., Razzaghi, B., OGara, P., Raina, P., Game, L., Bottolo, L., Schneider, M. D., Harding, S. E., Penninger, J., Aitman, T. J. Tags: Computational Biology, Cell Biology/Structural Biology, Mechanisms, Myocardial Regeneration, Gene Expression & Regulation Original Articles Source Type: research

From Genotype to Phenotype: A Primer on the Functional Follow-Up of Genome-Wide Association Studies in Cardiovascular Disease [Review]
Genome-wide association studies have implicated many human genomic loci in the development of complex traits. The loci identified by these studies are potentially involved in novel pathways that contribute to disease pathophysiology. However, eventual therapeutic targeting of these pathways relies on bridging the gap between genetic association and function—a task that first requires validation of causal genetic variants, casual genes, and directionality of effect. Executing this task requires basic knowledge of interpreting genome-wide association study results and prioritizing candidates for further study, in addit...
Source: Circulation: Cardiovascular Genetics - January 30, 2018 Category: Cardiology Authors: Lin, J., Musunuru, K. Tags: Gene Expression & Regulation, Genetic, Association Studies, Genetically Altered and Transgenic Models, Genetics, Functional Genomics Review Source Type: research

In This Issue: January [In This Issue: January]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - January 16, 2018 Category: Cardiology Tags: In This Issue: January Source Type: research