Article
Cardiac & Cardiovascular Systems
Seung Hoan Choi, Sean J. Jurgens, Lu-Chen Weng, James P. Pirruccello, Carolina Roselli, Mark Chaffin, Christina J. -Y. Lee, Amelia W. Hall, Amit V. Khera, Kathryn L. Lunetta, Steven A. Lubitz, Patrick T. Ellinor
CIRCULATION RESEARCH
(2020)
Article
Cardiac & Cardiovascular Systems
Nathan R. Tucker, Mark Chaffin, Stephen J. Fleming, Amelia W. Hall, Victoria A. Parsons, Kenneth C. Bedi, Amer-Denis Akkad, Caroline N. Herndon, Alessandro Arduini, Irinna Papangeli, Carolina Roselli, Francois Aguet, Seung Hoan Choi, Kristin G. Ardlie, Mehrtash Babadi, Kenneth B. Margulies, Christian M. Stegmann, Patrick T. Ellinor
Article
Multidisciplinary Sciences
Ioanna Ntalla, Lu-Chen Weng, James H. Cartwright, Amelia Weber Hall, Gardar Sveinbjornsson, Nathan R. Tucker, Seung Hoan Choi, Mark D. Chaffin, Carolina Roselli, Michael R. Barnes, Borbala Mifsud, Helen R. Warren, Caroline Hayward, Jonathan Marten, James J. Cranley, Maria Pina Concas, Paolo Gasparini, Thibaud Boutin, Ivana Kolcic, Ozren Polasek, Igor Rudan, Nathalia M. Araujo, Maria Fernanda Lima-Costa, Antonio Luiz P. Ribeiro, Renan P. Souza, Eduardo Tarazona-Santos, Vilmantas Giedraitis, Erik Ingelsson, Anubha Mahajan, Andrew P. Morris, Fabiola M. Del Greco, Luisa Foco, Martin Gogele, Andrew A. Hicks, James P. Cook, Lars Lind, Cecilia M. Lindgren, Johan Sundstrom, Christopher P. Nelson, Muhammad B. Riaz, Nilesh J. Samani, Gianfranco Sinagra, Sheila Ulivi, Mika Kahonen, Pashupati P. Mishra, Nina Mononen, Kjell Nikus, Mark J. Caulfield, Anna Dominiczak, Sandosh Padmanabhan, May E. Montasser, Jeff R. O'Connell, Kathleen Ryan, Alan R. Shuldiner, Stefanie Aeschbacher, David Conen, Lorenz Risch, Sebastien Theriault, Nina Hutri-Kahonen, Terho Lehtimaki, Leo-Pekka Lyytikainen, Olli T. Raitakari, Catriona L. K. Barnes, Harry Campbell, Peter K. Joshi, James F. Wilson, Aaron Isaacs, Jan A. Kors, Cornelia M. van Duijn, Paul L. Huang, Vilmundur Gudnason, Tamara B. Harris, Lenore J. Launer, Albert Smith, Erwin P. Bottinger, Ruth J. F. Loos, Girish N. Nadkarni, Michael H. Preuss, Adolfo Correa, Hao Mei, James Wilson, Thomas Meitinger, Martina Mueller-Nurasyid, Annette Peters, Melanie Waldenberger, Massimo Mangino, Timothy D. Spector, Michiel Rienstra, Yordi J. van de Vegte, Pim van der Harst, Niek Verweij, Stefan Kaab, Katharina Schramm, Moritz F. Sinner, Konstantin Strauch, Michael J. Cutler, Diane Fatkin, Barry London, Morten Olesen, Dan M. Roden, M. Benjamin Shoemaker, J. Gustav Smith, Mary L. Biggs, Joshua C. Bis, Jennifer A. Brody, Bruce M. Psaty, Kenneth Rice, Nona Sotoodehnia, Alessandro De Grandi, Christian Fuchsberger, Cristian Pattaro, Peter P. Pramstaller, Ian Ford, J. Wouter Jukema, Peter W. Macfarlane, Stella Trompet, Marcus Doerr, Stephan B. Felix, Uwe Voelker, Stefan Weiss, Aki S. Havulinna, Antti Jula, Katri Saaksjarvi, Veikko Salomaa, Xiuqing Guo, Susan R. Heckbert, Henry J. Lin, Jerome Rotter, Kent D. Taylor, Jie Yao, Renee de Mutsert, Arie C. Maan, Dennis O. Mook-Kanamori, Raymond Noordam, Francesco Cucca, Jun Ding, Edward G. Lakatta, Yong Qian, Kirill Tarasov, Daniel Levy, Honghuang Lin, Christopher H. Newton-Cheh, Kathryn L. Lunetta, Alison D. Murray, David J. Porteous, Blair H. Smith, Bruno H. Stricker, Andre Uitterlinden, Marten E. van den Berg, Jeffrey Haessler, Rebecca D. Jackson, Charles Kooperberg, Ulrike Peters, Alexander P. Reiner, Eric A. Whitsel, Alvaro Alonso, Dan E. Arking, Eric Boerwinkle, Georg B. Ehret, Elsayed Z. Soliman, Christy L. Avery, Stephanie M. Gogarten, Kathleen F. Kerr, Cathy C. Laurie, Amanda A. Seyerle, Adrienne Stilp, Solmaz Assa, M. Abdullah Said, M. Yldau van der Ende, Pier D. Lambiase, Michele Orini, Julia Ramirez, Stefan Van Duijvenboden, David O. Arnar, Daniel F. Gudbjartsson, Hilma Holm, Patrick Sulem, Gudmar Thorleifsson, Rosa B. Thorolfsdottir, Unnur Thorsteinsdottir, Emelia J. Benjamin, Andrew Tinker, Kari Stefansson, Patrick T. Ellinor, Yalda Jamshidi, Steven A. Lubitz, Patricia B. Munroe
NATURE COMMUNICATIONS
(2020)
Article
Cardiac & Cardiovascular Systems
Antoinette F. van Ouwerkerk, Amelia W. Hall, Zachary A. Kadow, Sonja Lazarevic, Jasmeet S. Reyat, Nathan R. Tucker, Rangarajan D. Nadadur, Fernanda M. Bosada, Valerio Bianchi, Patrick T. Ellinor, Larissa Fabritz, James F. Martin, Wouter de Laat, Paulus Kirchhof, Ivan P. Moskowitz, Vincent M. Christoffels
CIRCULATION RESEARCH
(2020)
Article
Cardiac & Cardiovascular Systems
Lu-Chen Weng, Amelia Weber Hall, Seung Hoan Choi, Sean J. Jurgens, Jeffrey Haessler, Nathan A. Bihlmeyer, Niels Grarup, Honghuang Lin, Alexander Teumer, Ruifang Li-Gao, Jie Yao, Xiuqing Guo, Jennifer A. Brody, Martina Mueller-Nurasyid, Katharina Schramm, Niek Verweij, Marten E. van den Berg, Jessica van Setten, Aaron Isaacs, Julia Ramirez, Helen R. Warren, Sandosh Padmanabhan, Jan A. Kors, Rudolf A. de Boer, Peter van der Meer, Moritz F. Sinner, Melanie Waldenberger, Bruce M. Psaty, Kent D. Taylor, Uwe Voelker, Jorgen K. Kanters, Man Li, Alvaro Alonso, Marco V. Perez, Ilonca Vaartjes, Michiel L. Bots, Paul L. Huang, Susan R. Heckbert, Henry J. Lin, Jelena Kornej, Patricia B. Munroe, Cornelia M. van Duijn, Folkert W. Asselbergs, Bruno H. Stricker, Pim van der Harst, Stefan Kaeaeb, Annette Peters, Nona Sotoodehnia, Jerome I. Rotter, Dennis O. Mook-Kanamori, Marcus Doerr, Stephan B. Felix, Allan Linneberg, Torben Hansen, Dan E. Arking, Charles Kooperberg, Emelia J. Benjamin, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2020)
Article
Cardiac & Cardiovascular Systems
Amelia Weber Hall, Mark Chaffin, Carolina Roselli, Honghuang Lin, Steven A. Lubitz, Valerio Bianchi, Geert Geeven, Kenneth Bedi, Kenneth B. Margulies, Wouter de Laat, Nathan R. Tucker, Patrick T. Ellinor
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2020)
Article
Cardiac & Cardiovascular Systems
Seung Hoan Choi, Sean J. Jurgens, Christopher M. Haggerty, Amelia W. Hall, Jennifer L. Halford, Valerie N. Morrill, Lu-Chen Weng, Braxton Lagerman, Tooraj Mirshahi, Mary Pettinger, Xiuqing Guo, Henry J. Lin, Alvaro Alonso, Elsayed Z. Soliman, Jelena Kornej, Honghuang Lin, Arden Moscati, Girish N. Nadkarni, Jennifer A. Brody, Kerri L. Wiggins, Brian E. Cade, Jiwon Lee, Christina Austin-Tse, Tom Blackwell, Mark D. Chaffin, Christina J-Y Lee, Heidi L. Rehm, Carolina Roselli, Susan Redline, Braxton D. Mitchell, Nona Sotoodehnia, Bruce M. Psaty, Susan R. Heckbert, Ruth J. F. Loos, Ramachandran S. Vasan, Emelia J. Benjamin, Adolfo Correa, Eric Boerwinkle, Dan E. Arking, Jerome Rotter, Stephen S. Rich, Eric A. Whitsel, Marco Perez, Charles Kooperberg, Brandon K. Fornwalt, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Summary: This study identified rare coding variants associated with population-based electrocardiographic intervals, uncovering known monogenic SCD genes and novel genes involved in cardiac conduction. These harmful variants showed incomplete penetrance but significantly increased the risk of abnormal electrocardiographic intervals.
CIRCULATION-GENOMIC AND PRECISION MEDICINE
(2021)
Article
Genetics & Heredity
James P. Pirruccello, Mark D. Chaffin, Elizabeth L. Chou, Stephen J. Fleming, Honghuang Lin, Mahan Nekoui, Shaan Khurshid, Samuel F. Friedman, Alexander G. Bick, Alessandro Arduini, Lu-Chen Weng, Seung Hoan Choi, Amer-Denis Akkad, Puneet Batra, Nathan R. Tucker, Amelia W. Hall, Carolina Roselli, Emelia J. Benjamin, Shamsudheen K. Vellarikkal, Rajat M. Gupta, Christian M. Stegmann, Dejan Juric, James R. Stone, Ramachandran S. Vasan, Jennifer E. Ho, Udo Hoffmann, Steven A. Lubitz, Anthony A. Philippakis, Mark E. Lindsay, Patrick T. Ellinor
Summary: Genome-wide association analyses identified variants associated with thoracic aortic diameter and polygenic score for ascending aortic diameter was correlated with a diagnosis of thoracic aortic aneurysm. Enlargement or aneurysm of the aorta predisposes to dissection, and a deep learning model along with genome-wide association studies successfully identified loci associated with ascending and descending thoracic aortic diameter, highlighting the potential for rapidly defining quantitative traits with deep learning in biomedical images.
Article
Genetics & Heredity
Sean J. Jurgens, Seung Hoan Choi, Valerie N. Morrill, Mark Chaffin, James P. Pirruccello, Jennifer L. Halford, Lu-Chen Weng, Victor Nauffal, Carolina Roselli, Amelia W. Hall, Matthew T. Oetjens, Braxton Lagerman, David P. VanMaanen, Regeneron Genetics Center, Krishna G. Aragam, Kathryn L. Lunetta, Christopher M. Haggerty, Steven A. Lubitz, Patrick T. Ellinor
Summary: This study analyzed the contribution of rare variants to cardiometabolic diseases using data from UK Biobank. They identified gene-based associations and found several genes associated with height, blood lipid, or glucose levels.
Article
Cardiac & Cardiovascular Systems
Victor Nauffal, Valerie N. Morrill, Sean J. Jurgens, Seung Hoan Choi, Amelia W. Hall, Lu-Chen Weng, Jennifer L. Halford, Christina Austin-Tse, Christopher M. Haggerty, Stephanie L. Harris, Eugene K. Wong, Alvaro Alonso, Dan E. Arking, Emelia J. Benjamin, Eric Boerwinkle, Yuan- Min, Adolfo Correa, Brandon K. Fornwalt, Susan R. Heckbert, Charles Kooperberg, Henry J. Lin, Ruth J.f. Loos, Kenneth M. Rice, Namrata Gupta, Thomas W. Blackwell, Braxton D. Mitchell, Alanna C. Morrison, Bruce M. Psaty, Wendy S. Post, Susan Redline, Heidi L. Rehm, Stephen S. Rich, Jerome I. Rotter, Elsayed Z. Soliman, Nona Sotoodehnia, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Summary: Using data from large-scale biorepositories, this study found 54 independent loci associated with cardiac repolarization, including 21 novel loci. The findings suggest that both rare variants in genes underlying cardiac repolarization and polygenic risk play a role in determining the duration of QT interval in the population.
Article
Cardiac & Cardiovascular Systems
Sian O'Brien, Andrew P. P. Holmes, Daniel M. M. Johnson, Christopher O'Shea, Molly O'Reilly, Adelisa Avezzu, Jasmeet S. S. Reyat, Amelia W. W. Hall, Clara Apicella, Patrick T. T. Ellinor, Steven Niederer, Nathan R. R. Tucker, Larissa Fabritz, Paulus Kirchhof, Davor Pavlovic, S. Nashitha Kabir
Summary: Atrial fibrillation is a major cause of stroke and heart failure in the elderly, and sodium channel blockers appear to have a relatively low risk of ventricular pro-arrhythmia in patients with this condition. The study found intrinsic differences between atrial and ventricular sodium currents, which may explain the reduced risk in atrial cells.
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2022)
Article
Multidisciplinary Sciences
Jennifer L. Halford, Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas A. Marston, Lu-Chen Weng, Victor Nauffal, Amelia W. Hall, Sophia Gunn, Christina A. Austin-Tse, James P. Pirruccello, Shaan Khurshid, Heidi L. Rehm, Emelia J. Benjamin, Eric Boerwinkle, Jennifer A. Brody, Adolfo Correa, Brandon K. Fornwalt, Namrata Gupta, Christopher M. Haggerty, Stephanie Harris, Susan R. Heckbert, Charles C. Hong, Charles Kooperberg, Henry J. Lin, Ruth J. F. Loos, Braxton D. Mitchell, Alanna C. Morrison, Wendy Post, Bruce M. Psaty, Susan Redline, Kenneth M. Rice, Stephen S. Rich, Jerome Rotter, Peter F. Schnatz, Elsayed Z. Soliman, Nona Sotoodehnia, Eugene K. Wong, Marc S. Sabatine, Christian T. Ruff, Kathryn L. Lunetta, Patrick T. Ellinor, Steven A. Lubitz
Summary: Accurate and efficient classification of variant pathogenicity is crucial for research and clinical care. This study demonstrates that population-based associations between rare variants and quantitative endophenotypes for monogenic diseases can provide evidence for variant pathogenicity.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Shaan Khurshid, Julieta Lazarte, James P. Pirruccello, Lu-Chen Weng, Seung Hoan Choi, Amelia W. Hall, Xin Wang, Samuel F. Friedman, Victor Nauffal, Kiran J. Biddinger, Krishna G. Aragam, Puneet Batra, Jennifer E. Ho, Anthony A. Philippakis, Patrick T. Ellinor, Steven A. Lubitz
Summary: A genome-wide association study on 43,000 UK Biobank participants using cardiac magnetic resonance-derived left ventricular mass index identified 12 associations, including 11 novel ones, related to cardiac contractility and cardiomyopathy. The study demonstrates the association between indexed left ventricular mass and incident cardiomyopathy, as well as implantable cardioverter-defibrillator implant. The findings highlight the importance of cardiac magnetic resonance in assessing cardiovascular risk.
NATURE COMMUNICATIONS
(2023)
Article
Cell Biology
Bridget Simonson, Mark Chaffin, Matthew C. Hill, Ondine Atwa, Yasmine Guedira, Harshit Bhasin, Amelia W. Hall, Sikander Hayat, Simon Baumgart, Kenneth C. Bedi, Kenneth B. Margulies, Carla A. Klattenhoff, Patrick T. Ellinor
Summary: Using single-nucleus RNA sequencing and computational analysis, the cellular and molecular signature of ischemic cardiomyopathy (ICM) was investigated. The study revealed alterations in the cellular composition of the ischemic heart, with decreased cardiomyocytes and increased proportions of lymphatic, angiogenic, and arterial endothelial cells in ICM patients. Furthermore, increased LAMININ signaling from endothelial cells and similarities in transcriptional changes were observed between ICM, hypertrophic, and dilated cardiomyopathies, which may help identify potential drug targets for end-stage heart failure.
Article
Cardiac & Cardiovascular Systems
Heather S. Jameson, Alan Hanley, Matthew C. Hill, Ling Xiao, Jiangchuan Ye, Aneesh Bapat, Elsa Ronzier, Amelia Weber Hall, William J. Hucker, Sebastian Clauss, Miranda Barazza, Elizabeth Silber, Julie A. Mina, Nathan R. Tucker, Robert W. Mills, Jin-Tang Dong, David J. Milan, Patrick T. Ellinor
Summary: This study identified the causative genetic variation related to atrial fibrillation (AF) at the ZFHX3 locus and explored the impact of Zfhx3 loss on cardiac function in mice. The results showed that ZFHX3 is the causative gene for AF at the 16q22 locus and its loss leads to cardiac abnormalities and dysregulation of atrial-specific pathways involved in AF susceptibility.
CIRCULATION RESEARCH
(2023)