Article
Medicine, General & Internal
Yusuke Ebana, Lian Liu, Kensuke Ihara, Keiko Abe, Chikashi Terao, Yoichiro Kamatani, Tetsuo Sasano, Tetsushi Furukawa
Summary: This study aimed to explore novel ischemic stroke risk variants in patients with a history of atrial fibrillation (AF), and to investigate their associations with CHADS2 and CHA2DS2-VASc scores. By conducting an association study on 8181 AF cases, we identified eight genetic loci that were potentially associated with the risk of ischemic stroke. Further analysis showed that these associations were independent of CHADS2 or CHA2DS2-VASc scores.
EUROPEAN JOURNAL OF CLINICAL INVESTIGATION
(2023)
Article
Biochemical Research Methods
Kleanthi Lakiotaki, Zaharias Papadovasilakis, Vincenzo Lagani, Stefanos Fafalios, Paulos Charonyktakis, Michail Tsagris, Ioannis Tsamardinos
Summary: This article introduces an automated machine learning approach customized for genomic data, which can provide reliable predictive and diagnostic models and discover genetic variants with higher predictive performance. The approach can also compute individual risk prediction scores, generalize to new, unseen data, and better differentiate causal variants from other highly correlated variants.
Article
Clinical Neurology
Manuela M. X. Tan, Michael A. Lawton, Edwin Jabbari, Regina H. Reynolds, Hirotaka Iwaki, Cornelis Blauwendraat, Sofia Kanavou, Miriam Pollard, Leon Hubbard, Naveed Malek, Katherine A. Grosset, Sarah L. Marrinan, Nin Bajaj, Roger A. Barker, David J. Burn, Catherine Bresner, Thomas Foltynie, Nicholas W. Wood, Caroline H. Williams-Gray, John Hardy, Michael A. Nalls, Andrew B. Singleton, Nigel M. Williams, Yoav Ben-Shlomo, Michele T. M. Hu, Donald G. Grosset, Maryam Shoai, Huw R. Morris
Summary: The study found that genetic variants associated with Parkinson's disease risk are not linked to disease progression. The APOE epsilon 4 tagging variant was significantly associated with cognitive progression, while ATP8B2 gene showed a nominal association with motor progression. The new method shows promise in improving the measurement of symptom progression in PD.
MOVEMENT DISORDERS
(2021)
Article
Genetics & Heredity
Kazuo Miyazawa, Kaoru Ito, Masamichi Ito, Zhaonan Zou, Masayuki Kubota, Seitaro Nomura, Hiroshi Matsunaga, Satoshi Koyama, Hirotaka Ieki, Masato Akiyama, Yoshinao Koike, Ryo Kurosawa, Hiroki Yoshida, Kouichi Ozaki, Yoshihiro Onouchi, Atsushi Takahashi, Koichi Matsuda, Yoshinori Murakami, Hiroyuki Aburatani, Michiaki Kubo, Yukihide Momozawa, Chikashi Terao, Shinya Oki, Hiroshi Akazawa, Yoichiro Kamatani, Issei Komuro
Summary: Genome-wide analyses in BioBank Japan and populations of European ancestry have identified new risk loci for atrial fibrillation. A polygenic risk score derived from cross-ancestry meta-analysis is associated with increased risk of long-term cardiovascular mortality. Despite the high heritability of atrial fibrillation, there is still incomplete understanding of its genetic architecture.
Article
Cardiac & Cardiovascular Systems
Tatsuhiko Naito, Kosuke Inoue, Kyuto Sonehara, Ryuta Baba, Takaya Kodama, Yu Otagaki, Akira Okada, Kiyotaka Itcho, Kazuhiro Kobuke, Shinji Kishimoto, Kenichi Yamamoto, Takayuki Morisaki, Yukihito Higashi, Nobuyuki Hinata, Koji Arihiro, Noboru Hattori, Yukinori Okada, Kenji Oki
Summary: This study identified 10 loci associated with the risk of primary aldosteronism (PA) in the Japanese population, and 5 significantly associated loci in a cross-ancestry meta-analysis. The strongest association was found with a variant of the WNT2B gene, highlighting the involvement of the Wnt/beta-catenin pathway in PA pathogenesis.
Article
Biochemistry & Molecular Biology
Aurina Arnatkeviciute, Mathieu Lemire, Claire Morrison, Michael Mooney, Peter Ryabinin, Nicole M. Roslin, Molly Nikolas, James Coxon, Jeggan Tiego, Ziarih Hawi, Alex Fornito, Walter Henrik, Jean-Luc Martinot, Marie-Laure Paillere Martinot, Eric Artiges, Hugh Garavan, Joel Nigg, Naomi P. Friedman, Christie Burton, Russell Schachar, Jennifer Crosbie, Mark A. Bellgrove
Summary: Deficits in effective executive function are associated with psychiatric disorders and impact everyday functioning. The genetic architecture of these traits is not well understood. This study identified genetic influences on inhibitory control using a genome wide association study, but larger sample sizes are needed for more robust associations. The results also support the use of executive function measures as endophenotypes for neuropsychiatric disorders.
MOLECULAR PSYCHIATRY
(2023)
Review
Cell Biology
Carina Mauersberger, Heribert Schunkert, Hendrik B. Sager
Summary: While the importance of inflammation in atherosclerosis is recognized, the exact molecular processes remain unclear. Modern genetics, specifically genome-wide association studies, have revealed many loci related to inflammatory processes in coronary artery disease, but translating these findings into specific molecular mechanisms is still challenging.
Article
Genetics & Heredity
Zheng Li, Wei Zhao, Lulu Shang, Thomas H. Mosley, Sharon L. R. Kardia, Jennifer A. Smith, Xiang Zhou
Summary: The METRO method combines gene expression data from different genetic ancestries to enhance TWAS studies on complex traits and diseases. The use of METRO can result in a larger and more accurate identification of gene-trait associations in GWAS of African ancestry.
AMERICAN JOURNAL OF HUMAN GENETICS
(2022)
Review
Cardiac & Cardiovascular Systems
Tejas P. Singh, Matt A. Field, Matthew J. Bown, Gregory T. Jones, Jonathan Golledge
Summary: This study systematically reviewed previous AAA GWAS and identified 33 SNPs associated with AAA diagnosis at genome-wide significance. However, the association between SNPs and AAA growth was not adequately examined. Previous GWAS have various design limitations, such as inconsistent case and control ascertainment and limited phenotyping of the AAAs.
Article
Oncology
Shefali Setia Verma, Lindsay Guare, Sarah Ehsan, Aimilia Gastounioti, Gabrielle D. Scales, Marylyn D. Ritchie, Despina Kontos, Anne Marie McCarthy
Summary: Black women in the US have higher breast cancer mortality rates and later-stage tumor diagnoses compared to White women. Previous studies have identified breast density as an important risk factor for breast cancer, but little is known about its influence on African ancestry populations. This study aimed to determine genetic factors associated with breast density in African ancestry populations using a Genome-Wide Association Study (GWAS) and post-GWAS analyses.
Review
Physiology
Roddy Walsh, Sean J. Jurgens, Jeanette Erdmann, Connie R. Bezzina
Summary: Genome-wide association studies (GWAS) have identified common genetic variants associated with traits and diseases, providing insights into genetic architecture, correlations across traits and diseases, and potential clinical applications. The utilization of GWAS in cardiovascular diseases and associated phenotypic traits has been facilitated by multicenter registry studies and large biobank data sets. However, challenges still exist in this field and need to be addressed.
PHYSIOLOGICAL REVIEWS
(2023)
Article
Endocrinology & Metabolism
Josephine H. Li, Laura N. Brenner, Varinderpal Kaur, Katherine Figueroa, Philip Schroeder, Alicia Huerta-Chagoya, Miriam S. Udler, Aaron Leong, Josep M. Mercader, Jose C. Florez, Magic Investigators, Diab Prevent Program DPP Res Grp
Summary: This study aimed to explore the genetic variation that influences the response to common glucose-lowering medications in individuals at risk of type 2 diabetes. The researchers identified five significant genetic variants associated with metformin or glipizide response, including two variants specific to individuals of African ancestry. Additionally, they found associations between type 2 diabetes-associated variants and glycaemic response.
Article
Biochemical Research Methods
Zheng Li, Jiayi Wu, Jiawen Yang, Kai Li, Ji Chen, Shuainan Huang, Qiang Ji, Xiaochao Kong, Sumei Xie, Wenxuan Zhan, Beilei Zhang, Ke Ye, Qingfan Liu, Zhengsheng Mao, Yue Cao, Huijie Huang, Youjia Yu, Kang Wang, Yanfang Yu, Ding Li, Feng Chen, Peng Chen
Summary: This study conducted a genome-wide association analysis on the Chinese Han population and identified a SNP rs17822931 associated with the differentiation of the northern and southern subpopulations. The study also introduced a method combining k-fold cross-validation with GWAS analysis to validate the feasibility of small-scale GWAS.
Article
Gastroenterology & Hepatology
Connor A. Emdin, Mary Haas, Veeral Ajmera, Tracey G. Simon, Julian Homburger, Cynthia Neben, Lan Jiang, Wei-Qi Wei, Qiping Feng, Alicia Zhou, Joshua Denny, Kathleen Corey, Rohit Loomba, Sekar Kathiresan, Amit Khera
Summary: This study identified 12 independent genetic variants, including 7 newly identified ones, that confer risk for cirrhosis. A polygenic score based on these variants can identify a subset of the population at substantially increased risk, particularly those susceptible to the hepatotoxic effects of excess alcohol consumption or obesity.
Article
Genetics & Heredity
Xiangguang Meng, Yali Nie, Keke Wang, Chen Fan, Juntao Zhao, Yiqiang Yuan
Summary: This study successfully identified novel biomarkers associated with atrial fibrillation (AF) and discovered two new AF-associated genes (ERBB2 and MYPN) through integrative genetic analysis approaches, combining GWAS with expression profile data. These findings provide preliminary data for further understanding the occurrence and development of AF.
FRONTIERS IN GENETICS
(2021)
Article
Medicine, General & Internal
Julien Feghaly, Ariana Mooradian
BRITISH JOURNAL OF HOSPITAL MEDICINE
(2020)
Review
Medicine, General & Internal
Julien Feghaly, Paul Johnson, Atul Kalhan
BRITISH JOURNAL OF HOSPITAL MEDICINE
(2020)
Article
Multidisciplinary Sciences
Sonia Shah, Albert Henry, Carolina Roselli, Honghuang Lin, Gardar Sveinbjornsson, Ghazaleh Fatemifar, Asa K. Hedman, Jemma B. Wilk, Michael P. Morley, Mark D. Chaffin, Anna Helgadottir, Niek Verweij, Abbas Dehghan, Peter Almgren, Charlotte Andersson, Krishna G. Aragam, Johan Arnlov, Joshua D. Backman, Mary L. Biggs, Heather L. Bloom, Jeffrey Brandimarto, Michael R. Brown, Leonard Buckbinder, David J. Carey, Daniel I. Chasman, Xing Chen, Xu Chen, Jonathan Chung, William Chutkow, James P. Cook, Graciela E. Delgado, Spiros Denaxas, Alexander S. Doney, Marcus Doerr, Samuel C. Dudley, Michael E. Dunn, Gunnar Engstrom, Tonu Esko, Stephan B. Felix, Chris Finan, Ian Ford, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Franco Giulianini, John S. Gottdiener, Stefan Gross, Daniel F. Gudbjartsson, Rebecca Gutmann, Christopher M. Haggerty, Pim van der Harst, Craig L. Hyde, Erik Ingelsson, J. Wouter Jukema, Maryam Kavousi, Kay-Tee Khaw, Marcus E. Kleber, Lars Kober, Andrea Koekemoer, Claudia Langenberg, Lars Lind, Cecilia M. Lindgren, Barry London, Luca A. Lotta, Ruth C. Lovering, Jian'an Luan, Patrik Magnusson, Anubha Mahajan, Kenneth B. Margulies, Winfried Maerz, Olle Melander, Ify R. Mordi, Thomas Morgan, Andrew D. Morris, Andrew P. Morris, Alanna C. Morrison, Michael W. Nagle, Christopher P. Nelson, Alexander Niessner, Teemu Niiranen, Michelle L. O'Donoghue, Anjali T. Owens, Colin N. A. Palmer, Helen M. Parry, Markus Perola, Eliana Portilla-Fernandez, Bruce M. Psaty, Kenneth M. Rice, Paul M. Ridker, Simon P. R. Romaine, Jerome I. Rotter, Perttu Salo, Veikko Salomaa, Jessica van Setten, Alaa A. Shalaby, Diane T. Smelser, Nicholas L. Smith, Steen Stender, David J. Stott, Per Svensson, Mari-Liis Tammesoo, Kent D. Taylor, Maris Teder-Laving, Alexander Teumer, Gudmundur Thorgeirsson, Unnur Thorsteinsdottir, Christian Torp-Pedersen, Stella Trompet, Benoit Tyl, Andre G. Uitterlinden, Abirami Veluchamy, Uwe Voelker, Adriaan A. Voors, Xiaosong Wang, Nicholas J. Wareham, Dawn Waterworth, Peter E. Weeke, Raul Weiss, Kerri L. Wiggins, Heming Xing, Laura M. Yerges-Armstrong, Bing Yu, Faiez Zannad, Jing Hua Zhao, Harry Hemingway, Nilesh J. Samani, John J. V. McMurray, Jian Yang, Peter M. Visscher, Christopher Newton-Cheh, Anders Malarstig, Hilma Holm, Steven A. Lubitz, Naveed Sattar, Michael V. Holmes, Thomas P. Cappola, Folkert W. Asselbergs, Aroon D. Hingorani, Karoline Kuchenbaecker, Patrick T. Ellinor, Chim C. Lang, Kari Stefansson, J. Gustav Smith, Ramachandran S. Vasan, Daniel I. Swerdlow, R. Thomas Lumbers, Goncalo Abecasis, Joshua Backman, Xiaodong Bai, Suganthi Balasubramanian, Nilanjana Banerjee, Aris Baras, Leland Barnard, Christina Beechert, Andrew Blumenfeld, Michael Cantor, Yating Chai, Jonathan Chung, Giovanni Coppola, Amy Damask, Frederick Dewey, Aris Economides, Gisu Eom, Caitlin Forsythe, Erin D. Fuller, Zhenhua Gu, Lauren Gurski, Paloma M. Guzzardo, Lukas Habegger, Young Hahn, Alicia Hawes, Cristopher van Hout, Marcus B. Jones, Shareef Khalid, Michael Lattari, Alexander Li, Nan Lin, Daren Liu, Alexander Lopez, Kia Manoochehri, Jonathan Marchini, Anthony Marcketta, Evan K. Maxwell, Shane McCarthy, Lyndon J. Mitnaul, Colm O'Dushlaine, John D. Overton, Maria Sotiropoulos Padilla, Charles Paulding, John Penn, Manasi Pradhan, Jeffrey G. Reid, Thomas D. Schleicher, Claudia Schurmann, Alan Shuldiner, Jeffrey C. Staples, Dylan Sun, Karina Toledo, Ricardo H. Ulloa, Louis Widom, Sarah E. Wolf, Ashish Yadav, Bin Ye
NATURE COMMUNICATIONS
(2020)
Article
Medicine, General & Internal
Julien Feghaly, James Ampadu, Ariana Mooradian, Elsayed Abo Salem
BRITISH JOURNAL OF HOSPITAL MEDICINE
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Barry London
CIRCULATION RESEARCH
(2020)
Article
Cardiac & Cardiovascular Systems
Daniel S. Matasic, Jin-Young Yoon, Jared M. McLendon, Haider Mehdi, Mark S. Schmidt, Alexander M. Greiner, Pravda Quinones, Gina M. Morgan, Ryan L. Boudreau, Kaikobad Irani, Charles Brenner, Barry London
JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY
(2020)
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)
Editorial Material
Cardiac & Cardiovascular Systems
Barry London, Ferhaan Ahmad, Daniel T. Eitzman, Ajay K. Gupta, Hani Jneid, Pamela Peterson, Carol A. Remme, Kenneth Rice, Erik B. Schelbert, Marc A. Simon, Lisa M. Sullivan, Janice M. Weinberg
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2020)
Editorial Material
Cardiac & Cardiovascular Systems
Barry London
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2021)
Article
Cardiac & Cardiovascular Systems
Jared M. McLendon, Xiaoming Zhang, Daniel S. Matasic, Mohit Kumar, Olha M. Koval, Isabella M. Grumbach, Sakthivel Sadayappan, Barry London, Ryan L. Boudreau
Summary: This study explores the dysregulation of Sorbs2 in adult-onset cardiomyopathies and heart failure. It demonstrates that Sorbs2 is crucial for maintaining structural integrity in cardiomyocytes and its loss leads to cardiac structural changes and contractile dysfunction. The study also identifies genetic variants associated with decreased Sorbs2 expression and human cardiac phenotypes.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Oncology
Jin-Young Yoon, Nastaran Daneshgar, Yi Chu, Biyi Chen, Marco Hefti, Ajit Vikram, Kaikobad Irani, Long-Sheng Song, Charles Brenner, E. Dale Abel, Barry London, Dao-Fu Dai
Summary: This study reveals the mechanistic explanations for cardiac bradyarrhythmia, diastolic dysfunction, and neuronal apoptosis observed in models of Leigh syndrome (LS).
CLINICAL AND TRANSLATIONAL MEDICINE
(2022)
Editorial Material
Cardiac & Cardiovascular Systems
Barry London
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Emma Herbach, Michael A. O'Rorke, Ryan M. Carnahan, Bradley D. McDowell, Bryan Allen, Isabella Grumbach, Barry London, Brian J. Smith, Douglas R. Spitz, Aaron Seaman, Elizabeth A. Chrischilles
Summary: This study compared the cardiac outcomes of stage III non-small-cell lung cancer patients who received adjuvant or neoadjuvant chemotherapy versus chemo-radiation therapy. The results showed that adding radiation therapy to chemotherapy increased the risk of severe cardiac events, and patients who received chemo-radiation had a higher cancer severity.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2022)
Article
Cardiac & Cardiovascular Systems
Philippe Chevalier, Pascal Roy, Francis Bessiere, Elodie Morel, Benedicte Ankou, Gina Morgan, Indrani Halder, Barry London, Wayne A. Minobe, Dobromir Slavov, Antoine Deliniere, Thomas Bochaton, Franck Paganelli, Nathalie Lesavre, Clement Boiteux, Jacques Mansourati, Philippe Maury, Gael Clerici, Pierre Francois Winum, Sophia P. Huebler, Ian A. Carroll, Michael R. Bristow
Summary: Cardiac adrenergic receptor gene polymorphisms are associated with the risk of developing ventricular fibrillation in patients with ST-segment-elevation myocardial infarction. Specifically, ADRB1 Gly49 and ADRA2C Del322-325 genotypes are associated with a lower incidence of ventricular fibrillation.
JOURNAL OF THE AMERICAN HEART ASSOCIATION
(2023)
Article
Cardiac & Cardiovascular Systems
Zachary Oman, Julien Feghaly, Lucas Gu, Ammar Nasir, Michael Forsberg
JOURNAL OF INVASIVE CARDIOLOGY
(2020)
