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Solena Le Scouarnec

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Articles

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction - Nature Genetics

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By Ta-Yu Yang, Shinsuke Itoh, Sébastien Thériault, Line Dufresne, Koichi Matsuda, Eric Farber-Eger, Fabien Laporte, Jean-Jacques Schott, Solena Le Scouarnec, Jonas Ghouse, Sisse R. Ostrowski, Erik S. Sørensen, Christina Mikkelsen, Ole B. Pedersen, Christian Erikstrup, Erik Abner, Jiwoo Lee, Andrea Ganna, Sarah Finer, Johannes Schumacher, Carlo Maj, Marta R. Moksnes, Ben M Brumpton, Stacey Knight, Peter S. Braund, Tomasz Czuba, Margaret Sunitha Selvaraj, Satoshi Koyama, Johan Ljungberg, Scott M. Damrauer, Michael Levin, Andre Franke, Kaoru Ito, Ron Do, Heribert Schunkert, Thierry Le Tourneau, Christopher R. Gignoux, Henning Bundgaard, Patrick Mathieu, J. Gustav Smith, Nicholas A. Marston, Peter Wilson, Christopher O’Donnell Verified, Kari Stefansson, Yohan Bossé, James C. Engert, Gina M. Peloso, Pradeep Natarajan
| Nature Verified
Abstract Aortic stenosis (AS) is a common valvular heart disease and has no pharmacological therapies. We performed a multi-ancestry genome-wide association meta-analysis of 86,864 AS cases among 2,853,408 individuals, discovering 241 autosomal independent risk loci and 3 X chromosome risk loci.
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Dysfunction of the Voltage‐Gated K+ Channel β2 Subunit in a Familial Case of Brugada Syndrome

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By Estelle Baron, Carol Scott, Stéphanie Chatel, Gildas Loussouarn, Thomas O'Hara, Jean‐Jacques Schott, Vincent Probst, Isabelle Baró, Flavien Charpentier, Vincent Portero, Solena Le Scouarnec, Sophie Burel, Jean‐Baptiste Gourraud, Stéphanie Bonnaud, Pierre Lindenbaum, Floriane Simonet, Jade Violleau, Eléonore Moreau, Philippe Mabo, Christian Dina, Hervé Le Marec, Céline Marionneau
| jaha.ahajournals.org
Methods and Results We combined whole‐exome sequencing and linkage analysis to identify the genetic variant likely causing Brugada syndrome in a pedigree for which SCN5A mutations had been excluded. This approach identified 6 genetic variants cosegregating with the Brugada electrocardiographic pattern within the pedigree. In silico gene prioritization pointed to 1 variant residing in KCNAB2, which encodes the voltage‐gated K+ channel β2‐subunit (Kvβ2‐R12Q).
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