Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults [Original Articles]
Conclusions— Whole exome sequencing is an exceptionally valuable screening tool for its capability to establish the clinical diagnosis of inherited CVDs, particularly for poorly defined cases of sudden cardiac death. By presenting novel candidate genes and their potential disease associations, we also provide evidence for the use of this genetic tool for the identification of novel CVD genes. Creation and sharing of exome databases across centers of care should facilitate the discovery of unknown CVD genes. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - January 12, 2017 Category: Cardiology Authors: Seidelmann, S. B., Smith, E., Subrahmanyan, L., Dykas, D., Abou Ziki, M. D., Azari, B., Hannah-Shmouni, F., Jiang, Y., Akar, J. G., Marieb, M., Jacoby, D., Bale, A. E., Lifton, R. P., Mani, A. Tags: Arrhythmias, Sudden Cardiac Death, Genetics, Cardiomyopathy Original Articles Source Type: research

Osteoprotegerin Disruption Attenuates HySu-Induced Pulmonary Hypertension Through Integrin {alpha}v{beta}3/FAK/AKT Pathway Suppression [Original Articles]
Conclusions— Osteoprotegerin facilitates PAH pathogenesis by regulating pulmonary arterial smooth muscle cell proliferation, suggesting that it may be a potential biomarker and therapeutic target in this disease. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - January 10, 2017 Category: Cardiology Authors: Jia, D., Zhu, Q., Liu, H., Zuo, C., He, Y., Chen, G., Lu, A. Tags: Pulmonary Biology, Cell Signaling/Signal Transduction, Pulmonary Hypertension Original Articles Source Type: research

Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?" [Letters to the Editor]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Crotti, L., Lahtinen, A. M., Spazzolini, C., Mastantuono, E., Cristina Monti, M., Morassutto, C., Parati, G., Heradien, M., Goosen, A., Lichtner, P., Meitinger, T., Brink, P. A., Kontula, K., Swan, H., Schwartz, P. J. Tags: Arrhythmias, Sudden Cardiac Death, Ion Channels/Membrane Transport, Genetic, Association Studies Letters to the Editor Source Type: research

Letter by Amin et al Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?" [Letters to the Editor]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Amin, A. S., Pinto, Y. M., Ackerman, M. J., Wilde, A. A. M. Tags: Sudden Cardiac Death, Mechanisms, Genetics Letters to the Editor Source Type: research

Letter by Finsterer and Zarrouk-Mahjoub Regarding Article, "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" [Letters to the Editor]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Finsterer, J., Zarrouk-Mahjoub, S. Tags: Genetics, Echocardiography, Magnetic Resonance Imaging (MRI) Letters to the Editor Source Type: research

Letter by Brown Regarding Article, "Genetic Risk Scores Predict Recurrence of Acute Coronary Syndrome" [Letters to the Editor]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Brown, S.-A. Tags: Cardiovascular Disease, Primary Prevention, Risk Factors, Secondary Prevention, Genetics Letters to the Editor Source Type: research

New Insights Into the Genetic Basis of Inherited Arrhythmia Syndromes [Advances in Genetics]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Gray, B., Behr, E. R. Tags: Arrhythmias, Sudden Cardiac Death, Genetics Advances in Genetics Source Type: research

Methylenetetrahydrofolate Dehydrogenase 1 Polymorphisms Modify the Associations of Plasma Glycine and Serine With Risk of Acute Myocardial Infarction in Patients With Stable Angina Pectoris in WENBIT (Western Norway B Vitamin Intervention Trial) [Original Articles]
Conclusions— Our results showed that 2 common and functional polymorphisms in the MTHFD1 gene modulate the risk associations of plasma serine and glycine with AMI. These findings emphasize the possible role of the MTHFD1 in regulating serine and glycine metabolism in relation to atherosclerotic complications. Clinical Trial Registration— URL: http://www.clinicaltrials.gov. Unique Identifier: NCT00354081. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Ding, Y., Pedersen, E. R., Svingen, G. F. T., Helgeland, O., Gregory, J. F., Loland, K. H., Meyer, K., Tell, G. S., Ueland, P. M., Nygard, O. K. Tags: Cardiovascular Disease, Genetic, Association Studies, Coronary Artery Disease Original Articles Source Type: research

Clinical Utility of Multimarker Genetic Risk Scores for Prediction of Incident Coronary Heart Disease: A Cohort Study Among Over 51 Thousand Individuals of European Ancestry [Original Articles]
Conclusions— Our results demonstrate significant and clinically relevant incremental discriminative/predictive capability of 4 multilocus GRSs for incident CHD among subjects of European ancestry. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Iribarren, C., Lu, M., Jorgenson, E., Martinez, M., Lluis-Ganella, C., Subirana, I., Salas, E., Elosua, R. Tags: Cardiovascular Disease, Primary Prevention, Risk Factors, Genetic, Association Studies Original Articles Source Type: research

Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship [Original Articles]
Conclusions— HoFH frequency in Spain was higher than expected. Clinical criteria would underestimate the actual prevalence of individuals with genetic HoFH, highlighting the importance of genetic analysis to improve familial hypercholesterolemia diagnosis accuracy. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Sanchez-Hernandez, R. M., Civeira, F., Stef, M., Perez-Calahorra, S., Almagro, F., Plana, N., Novoa, F. J., Saenz-Aranzubia, P., Mosquera, D., Soler, C., Fuentes, F. J., Brito-Casillas, Y., Real, J. T., Blanco-Vaca, F., Ascaso, J. F., Pocovi, M. Tags: Lipids and Cholesterol, Genetics, Atherosclerosis Original Articles Source Type: research

Cardiovascular Risk Factors Associated With Blood Metabolite Concentrations and Their Alterations During a 4-Year Period in a Population-Based Cohort [Original Articles]
Conclusions— This study showed sex-specific effects of lifestyle risks factors on human metabolism and highlighted their long-term metabolic consequences. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Lacruz, M. E., Kluttig, A., Tiller, D., Medenwald, D., Giegling, I., Rujescu, D., Prehn, C., Adamski, J., Frantz, S., Greiser, K. H., Emeny, R. T., Kastenmuller, G., Haerting, J. Tags: Metabolism, Lifestyle, Risk Factors Original Articles Source Type: research

Sucrose Nonfermenting-Related Kinase Enzyme-Mediated Rho-Associated Kinase Signaling is Responsible for Cardiac Function [Original Articles]
Conclusions— Collectively, our data suggest that SNRK in cardiomyocytes is responsible for maintaining cardiac metabolic homeostasis, which is mediated in part by ROCK, and alteration of this homeostasis influences cardiac function in the adult heart. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Cossette, S. M., Bhute, V. J., Bao, X., Harmann, L. M., Horswill, M. A., Sinha, I., Gastonguay, A., Pooya, S., Bordas, M., Kumar, S. N., Mirza, S. P., Palecek, S. P., Strande, J. L., Ramchandran, R. Tags: Basic Science Research, Mechanisms, Metabolism, Myocardial Biology, Proteomics Original Articles Source Type: research

Predicting Incident Coronary Heart Disease Many Markers at a Time [Editorials]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Bush, W. S., Crawford, D. C. Tags: Risk Factors, Genetic, Association Studies, Genetics Editorials Source Type: research

Genetic Risk and Altering Lipids With Lifestyle Changes and Metformin: Is Fate Modifiable? [Editorials]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - December 19, 2016 Category: Cardiology Authors: Pereira, N. L. Tags: Lipids and Cholesterol, Cardiovascular Disease, Diet and Nutrition, Primary Prevention, Genetics Editorials Source Type: research

Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin [Original Articles]
Conclusions— We conclude that quantitative models derived from large-scale human genetic and phenotypic data can be applied to help overcome the ever-growing challenges of genetic data interpretation. Results of our approach can be found at http://cvri.ucsf.edu/~deo/TTNtruncationvariant.html. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 17, 2016 Category: Cardiology Authors: Deo, R. C. Tags: Genetics, Cardiomyopathy Original Articles Source Type: research