Article
Genome and Transcriptome-Wide Analyses Identify Multiple Candidate Genes and a Significant Polygenic Contribution in Bicuspid Aortic Valve.
Circulation - 7 Apr 2026
Thériault Sébastien, Holdcraft Jacob A, Sharipova Dinara, Faucherre Adèle, Debiec Radoslaw M, Peloso Gina M, Al-Kassou Baravan, Aranki Sary, Ashikhmina Swan Elena, Ballotta Andrea, Bellino Michele, Björck Hanna M, Boureau Anne Sophie, Braund Peter S, Corriveau François, Dagenais François, Folkersen Lasse, Forte Amalia, Francke Michael D, Frigiola Alessandro, Gorbatov Svetlana, Guo Dongchuan, Habchi Karam M, Heydarpour Mahyar, Isselbacher Eric M, Jopling Chris, Laporte Fabien, Le Scouarnec Solena, Li Zhonglin, Lichtner Peter, Maj Carlo, Manikpurage Hasanga D, Nelson Christopher P, Nguyen Thy B, Norris Russell A, Ong Chin Siang, Pibarot Philippe, Roychowdhury Tanmoy, Sarubbi Berardo, Simonet Floriane, Sundt Thoralf, Surakka Ida, Tessler Idit, Willer Cristen J, Wittmann Susanne, Yang Bo, Berezovets Igor, Doppler Stefanie A, Dreßen Martina, Knoll Katharina, Puehler Thomas, Schunkert Heribert, Avierinos Jean-François, Bissell Malenka M, Bolger Aidan P, Bossé Yohan, Bossone Eduardo, Brion María, Citro Rodolfo, de Vincentiis Carlo, Deeb G Michael, Della Corte Alessandro, Dina Christian, Durst Ronen, Ensminger Stephan, Eriksson Per, Evangelista Arturo, Franco-Cereceda Anders, Gilon Dan, Giusti Betti, Hetherington Simon L, Huggins Gordon S, Krane Markus, Le Tourneau Thierry, Limongelli Giuseppe, Mathieu Patrick, Messika-Zeitoun David, Michelena Hector I, Milewicz Dianna, Muehlschlegel Jochen D, Murdock David R, Nickenig Georg, Nistri Stefano, Nöthen Markus M, Pluchinotta Francesca, Prakash Siddharth K, Samani Nilesh J, Schott Jean-Jacques, Webb Tom R, Zaffran Stéphane, Abdelilah-Seyfried Salim, Eagle Kim, Schumacher Johannes, Trenkwalder Teresa, Body Simon C
Abstract excerpt
BACKGROUND: Bicuspid aortic valve (BAV) is a frequent congenital heart defect with a high heritability. Despite this, only a limited number of genes have been associated with the disease, and the molecular mechanisms remain unexplained in most cases. This study aimed to further understand the genetic architecture of BAV. METHODS: A genome-wide association study meta-analysis including 9631 cases among 65 677...
