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SCARB1 Gene Variants Are Associated With the Phenotype of Combined High High-Density Lipoprotein Cholesterol and High Lipoprotein (a) [Original Articles]
Conclusions— Human SCARB1 gene variants are associated with a new lipid phenotype, characterized by high levels of both HDL cholesterol and Lp(a). SCARB1 exonic variants often result in diminished function of translated SR-B1 via reduced binding/intracellular transport of Lp(a). (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 17, 2016 Category: Cardiology Authors: Yang, X., Sethi, A., Yanek, L. R., Knapper, C., Nordestgaard, B. G., Tybjaerg-Hansen, A., Becker, D. M., Mathias, R. A., Remaley, A. T., Becker, L. C. Tags: Lipids and Cholesterol, Genetic, Association Studies, Functional Genomics Original Articles Source Type: research

Decoding the Long Noncoding RNA During Cardiac Maturation: A Roadmap for Functional Discovery [Original Articles]
Conclusions— The study provides the first high-resolution landscape on neonatal cardiac lncRNAs and reveals their potential interaction with mRNA transcriptome during cardiac maturation. Ppp1r1b-lncRNA was identified as a regulator of Tcap expression, with dynamic interaction in postnatal cardiac development and congenital heart defects. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 17, 2016 Category: Cardiology Authors: Touma, M., Kang, X., Zhao, Y., Cass, A. A., Gao, F., Biniwale, R., Coppola, G., Xiao, X., Reemtsen, B., Wang, Y. Tags: Epigenetics, Gene Expression & Regulation, Functional Genomics Original Articles Source Type: research

Wrestling the Giant: New Approaches for Assessing Titin Variant Pathogenicity [Editorials]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 17, 2016 Category: Cardiology Authors: Helle, E., Parikh, V. N. Tags: Genetics, Functional Genomics, Cardiomyopathy, Heart Failure Editorials Source Type: research

Of Caps and Gaps, Postnatal Hearts, Elusive Facts, and lncs [Editorials]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - October 17, 2016 Category: Cardiology Authors: Matkovich, S. J. Tags: Gene Expression & Regulation, Functional Genomics Editorials Source Type: research

Functional Promoter Variant in Desmocollin-2 Contributes to Arrhythmogenic Right Ventricular Cardiomyopathy [Clinical Genomic Cases]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Christensen, A. H., Schmitz, B., Andersen, C. B., Bundgaard, H., Brand, S.-M., Svendsen, J. H. Tags: Functional Genomics, Cardiomyopathy Clinical Genomic Cases Source Type: research

Associations Between Common and Rare Exonic Genetic Variants and Serum Levels of 20 Cardiovascular-Related Proteins: The Tromso Study [Original Articles]
Conclusions— We have identified cis and trans genetic variation associated with the serum levels of 20 proteins and utilized these pQTLs to study molecular mechanisms underlying disease and physiological phenotypes. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Solomon, T., Smith, E. N., Matsui, H., Braekkan, S. K., INVENT Consortium, Wilsgaard, T., Njolstad, I., Mathiesen, E. B., Hansen, J.-B., Frazer, K. A. Tags: Biomarkers, Genetic, Association Studies, Atherosclerosis, Thrombosis Original Articles Source Type: research

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study [Original Articles]
Conclusions— A limited number of null/damaging alleles with a large effect on cardiovascular traits were detectable in 3000 black individuals. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Peloso, G. M., Lange, L. A., Varga, T. V., Nickerson, D. A., Smith, J. D., Griswold, M. E., Musani, S., Polfus, L. M., Mei, H., Gabriel, S., Quarells, R. C., Altshuler, D., Boerwinkle, E., Daly, M. J., Neale, B., Correa, A., Reiner, A. P., Wilson, J. G., Tags: Lipids and Cholesterol, Genetic, Association Studies, Genetics Original Articles Source Type: research

Rare Variants in the ADAMTS13 Von Willebrand Factor-Binding Domain Contribute to Pediatric Stroke [Original Articles]
Conclusions— Our data provide a link between the genetic architecture of ADAMTS13, ADAMTS13 levels, and stroke susceptibility. Altogether, these studies render ADAMTS13 an attractive candidate for functional studies and may contribute to personalized diagnosis and treatment options in future. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Stoll, M., Ruhle, F., Witten, A., Barysenka, A., Arning, A., Strauss, C., Nowak-Gottl, U. Tags: Cardiovascular Disease, Genetic, Association Studies, Ischemic Stroke, Thrombosis Original Articles Source Type: research

Mendelian Randomization Studies Do Not Support a Role for Vitamin D in Coronary Artery Disease [Original Articles]
Conclusions— Genetically lowered 25OHD levels were not associated with increased risk of CAD in a large, well-powered study, suggesting that previous associations between circulating 25OHD levels and CAD are possibly confounded or due to reverse causation. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Manousaki, D., Mokry, L. E., Ross, S., Goltzman, D., Richards, J. B. Tags: Biomarkers, Epidemiology, Risk Factors, Genetic, Association Studies, Coronary Artery Disease Original Articles Source Type: research

Genotype-Dependent Effects of Dalcetrapib on Cholesterol Efflux and Inflammation: Concordance With Clinical Outcomes [Original Articles]
Conclusions— Genotype-dependent effects on C-reactive protein and cholesterol efflux are supportive of dalcetrapib benefits on atherosclerotic cardiovascular outcomes in patients with the AA genotype at polymorphism rs1967309. Clinical Trials Registration— ClinicalTrials.gov; Unique Identifiers: NCT00658515 and NCT01059682. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Tardif, J.-C., Rhainds, D., Brodeur, M., Feroz Zada, Y., Fouodjio, R., Provost, S., Boule, M., Alem, S., Gregoire, J. C., LAllier, P. L., Ibrahim, R., Guertin, M.-C., Mongrain, I., Olsson, A. G., Schwartz, G. G., Rheaume, E., Dube, M.-P. Tags: Clinical Studies, Inflammation, Lipids and Cholesterol, Pharmacology, Coronary Artery Disease Original Articles Source Type: research

Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1? [Original Articles]
Conclusions— 3' Untranslated region SNPs are not acting as genetic modifiers in a large group of LQT1 patients. The confounding effect of merging a genetically and clinically heterogeneous group of patients needs to be taken into account when studying disease modifiers. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Crotti, L., Lahtinen, A. M., Spazzolini, C., Mastantuono, E., Monti, M. C., Morassutto, C., Parati, G., Heradien, M., Goosen, A., Lichtner, P., Meitinger, T., Brink, P. A., Kontula, K., Swan, H., Schwartz, P. J. Tags: Arrhythmias, Ion Channels/Membrane Transport, Mechanisms, Risk Factors, Genetic, Association Studies Original Articles Source Type: research

Utilization of Whole Exome Sequencing to Identify Causative Mutations in Familial Congenital Heart Disease [Original Articles]
Conclusions— Our findings demonstrate the clinical utility of WES to identify causative mutations in familial CHD and demonstrate the successful use of a CHD candidate gene list to allow for a more streamlined approach enabling rapid prioritization and identification of likely pathogenic variants from large WES data sets. Clinical Trial Registration— URL: https://clinicaltrials.gov; Unique Identifier: NCT0112048. (Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: LaHaye, S., Corsmeier, D., Basu, M., Bowman, J. L., Fitzgerald-Butt, S., Zender, G., Bosse, K., McBride, K. L., White, P., Garg, V. Tags: Translational Studies, Genetics, Congenital Heart Disease Original Articles Source Type: research

Exomes, Proteins, and Cardiovascular Disease: Making Sense of the Signals [Editorials]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: McGarrah, R. W., Shah, S. H. Tags: Biomarkers, Genetics, Functional Genomics Editorials Source Type: research

The Heritable Basis of Congenital Heart Disease: Past, Present, and Future [Editorials]
(Source: Circulation: Cardiovascular Genetics)
Source: Circulation: Cardiovascular Genetics - August 15, 2016 Category: Cardiology Authors: Nogee, J. M., Jay, P. Y. Tags: Genetics Editorials Source Type: research

Nutrigenomics, the Microbiome, and Gene-Environment Interactions: New Directions in Cardiovascular Disease Research, Prevention, and Treatment: A Scientific Statement From the American Heart Association [AHA Scientific Statement]
Cardiometabolic diseases are the leading cause of death worldwide and are strongly linked to both genetic and nutritional factors. The field of nutrigenomics encompasses multiple approaches aimed at understanding the effects of diet on health or disease development, including nutrigenetic studies investigating the relationship between genetic variants and diet in modulating cardiometabolic risk, as well as the effects of dietary components on multiple "omic" measures, including transcriptomics, metabolomics, proteomics, lipidomics, epigenetic modifications, and the microbiome. Here, we describe the current state of the fie...
Source: Circulation: Cardiovascular Genetics - June 20, 2016 Category: Cardiology Authors: Ferguson, J. F., Allayee, H., Gerszten, R. E., Ideraabdullah, F., Kris-Etherton, P. M., Ordovas, J. M., Rimm, E. B., Wang, T. J., Bennett, B. J., on behalf of the American Heart Association Council on Functional Genomics and Translational Biology, Council Tags: Statements and Guidelines AHA Scientific Statement Source Type: research