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MicroRNA Signature of Cigarette Smoking and Evidence for a Putative Causal Role of MicroRNAs in Smoking-Related Inflammation and Target Organ Damage [Original Articles]
Conclusions— We characterized a novel microRNA signature of cigarette smoking. The top microRNAs were associated with systemic inflammatory markers and reduced pulmonary function, correlated with expression of genes involved in immune function, and were sufficient to modulate inflammatory signaling. Our results highlight smoking-associated microRNAs and are consistent with the hypothesis that smoking-associated microRNAs serve as mediators of smoking-induced inflammation and target organ damage. These findings call for further mechanistic studies to explore the diagnostic and therapeutic use of smoking-related microR...
Source: Circulation: Cardiovascular Genetics - October 13, 2017 Category: Cardiology Authors: Willinger, C. M., Rong, J., Tanriverdi, K., Courchesne, P. L., Huan, T., Wasserman, G. A., Lin, H., Dupuis, J., Joehanes, R., Jones, M. R., Chen, G., Benjamin, E. J., OConnor, G. T., Mizgerd, J. P., Freedman, J. E., Larson, M. G., Levy, D. Tags: Epidemiology, Lifestyle, Risk Factors, Functional Genomics Original Articles Source Type: research

One Size Does Not Fit All: Genetic Prediction of Kawasaki Disease Treatment Response in Diverse Populations [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 12, 2017 Category: Cardiology Authors: Portman, M. A., Shrestha, S. Tags: Genetic, Association Studies, Inflammatory Heart Disease Editorial Source Type: research

Modifying Mendel Redux: Unbiased Approaches Can Find Modifiers [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 12, 2017 Category: Cardiology Authors: McBride, K. L., Ware, S. M. Tags: Basic Science Research, Clinical Studies, Mechanisms, Genetic, Association Studies, Genetics Editorial Source Type: research

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3 [Original Articles]
Conclusions— In conclusion, common variants may contribute to TOF in 22q11.2DS and may function in cardiac outflow tract development. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 12, 2017 Category: Cardiology Authors: Guo, T., Repetto, G. M., McDonald McGinn, D. M., Chung, J. H., Nomaru, H., Campbell, C. L., Blonska, A., Bassett, A. S., Chow, E. W. C., Mlynarski, E. E., Swillen, A., Vermeesch, J., Devriendt, K., Gothelf, D., Carmel, M., Michaelovsky, E., Schneider, M., Tags: Translational Studies, Genetic, Association Studies, Congenital Heart Disease Original Articles Source Type: research

Prediction for Intravenous Immunoglobulin Resistance by Using Weighted Genetic Risk Score Identified From Genome-Wide Association Study in Kawasaki Disease [Original Articles]
Conclusions— This is the first weighted genetic risk score study based on a genome-wide association study in KD. The predictive model integrated the additive effects of all 11 single-nucleotide polymorphisms to provide a prediction of the responsiveness to IVIG. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 12, 2017 Category: Cardiology Authors: Kuo, H.-C., Wong, H. S.-C., Chang, W.-P., Chen, B.-K., Wu, M.-S., Yang, K. D., Hsieh, K.-S., Hsu, Y.-W., Liu, S.-F., Liu, X., Chang, W.-C. Tags: Computational Biology, Biomarkers, Translational Studies, Genetic, Association Studies, Genetics Original Articles Source Type: research

Machine Learning and Rare Variant Adjudication in Type 1 Long QT Syndrome [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 11, 2017 Category: Cardiology Authors: Giudicessi, J. R. Tags: Genetics Editorial Source Type: research

Commercially Available Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes: Another Piece in Our Tool Box, but Not a Swiss Army Knife Yet [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 11, 2017 Category: Cardiology Authors: Boldt, L.-H., Parwani, A. S., Heinzel, F. R. Tags: Arrhythmias, Etiology, Ion Channels/Membrane Transport, Stem Cells Editorial Source Type: research

Characterization of a Human Induced Pluripotent Stem Cell-Derived Cardiomyocyte Model for the Study of Variant Pathogenicity: Validation of a KCNJ2 Mutation [Original Articles]
Conclusions— Our study confirms the pathogenicity of Kir2.1-52V in 1 patient with long-QT syndrome and also supports the use of isogenic human induced pluripotent stem cell–derived cardiomyocytes as a physiologically relevant model for the screening of variants of unknown function. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 11, 2017 Category: Cardiology Authors: Gelinas, R., El Khoury, N., Chaix, M.-A., Beauchamp, C., Alikashani, A., Ethier, N., Boucher, G., Villeneuve, L., Robb, L., Latour, F., Mondesert, B., Rivard, L., Goyette, P., Talajic, M., Fiset, C., Rioux, J. D. Tags: Arrhythmias, Electrophysiology, Sudden Cardiac Death, Stem Cells, Genetics Original Articles Source Type: research

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance [Original Articles]
Conclusions— Although a plethora of tools are available for making pathogenicity predictions over a genome-wide scale, previous tools fail to perform in a robust manner when applied to KCNQ1. The contrasting and favorable results for Q1VarPred suggest a promising approach, where a machine-learning algorithm is tailored to a specific protein target and trained with a functionally validated data set to calibrate informatics tools. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 11, 2017 Category: Cardiology Authors: Li, B., Mendenhall, J. L., Kroncke, B. M., Taylor, K. C., Huang, H., Smith, D. K., Vanoye, C. G., Blume, J. D., George, A. L., Sanders, C. R., Meiler, J. Tags: Arrhythmias, Electrophysiology, Computational Biology, Genetics Original Articles Source Type: research

Clinical Characteristics of the GLA N215S Variant and Implications for the Diagnosis and Management of Nonclassic Fabry Disease [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 10, 2017 Category: Cardiology Authors: Reuter, C., Platt, J. Tags: Genetics, Cardiomyopathy, Hypertrophy Editorial Source Type: research

{alpha}-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease [Original Articles]
Conclusions— α-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy. The lack of prominent noncardiac impairment leads to a significant delay in diagnosis and Fabry-specific therapy. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 10, 2017 Category: Cardiology Authors: Oder, D., Liu, D., Hu, K., Uceyler, N., Salinger, T., Muntze, J., Lorenz, K., Kandolf, R., Grone, H.-J., Sommer, C., Ertl, G., Wanner, C., Nordbeck, P. Tags: Nephrology and Kidney, Genetics, Cardiomyopathy, Hypertrophy, Cerebrovascular Disease/Stroke Original Articles Source Type: research

Inheritance Impacts Mitral Valve Insufficiency [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 9, 2017 Category: Cardiology Authors: Judge, D. P., Norris, R. A. Tags: Genetic, Association Studies, Genetics, Valvular Heart Disease Editorial Source Type: research

Heterozygous Null LDLR Mutation in a Familial Hypercholesterolemia Patient With an Atypical Presentation Because of Alcohol Abuse [Clinical Genomic Cases]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 9, 2017 Category: Cardiology Authors: Panach, K., Garg, A., Ahmad, Z. Tags: Lipids and Cholesterol, Genetics, Diagnostic Testing, Atherosclerosis Clinical Genomic Cases Source Type: research

Heritability of Mitral Regurgitation: Observations From the Framingham Heart Study and Swedish Population [Original Articles]
Conclusions— Familial clustering of MR exists in the community, supporting a genetic susceptibility common to primary and nonprimary MR. Further studies are needed to elucidate the common regulatory pathways that may lead to MR irrespective of its cause. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 9, 2017 Category: Cardiology Authors: Delling, F. N., Li, X., Li, S., Yang, Q., Xanthakis, V., Martinsson, A., Andell, P., Lehman, B. T., Osypiuk, E. W., Stantchev, P., Zoller, B., Benjamin, E. J., Sundquist, K., Vasan, R. S., Smith, J. G. Tags: Epidemiology, Genetics, Valvular Heart Disease, Echocardiography Original Articles Source Type: research

QT Interval Determinant: Mutations, Rare Variants, or Single-Nucleotide Polymorphisms? [Editorial]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 6, 2017 Category: Cardiology Authors: Aiba, T., Takahashi, A. Tags: Electrophysiology, Genetic, Association Studies Editorial Source Type: research