Nature Communications (Oct 2018)
Rare truncating variants in the sarcomeric protein titin associate with familial and early-onset atrial fibrillation
- Gustav Ahlberg,
- Lena Refsgaard,
- Pia R. Lundegaard,
- Laura Andreasen,
- Mattis F. Ranthe,
- Nora Linscheid,
- Jonas B. Nielsen,
- Mads Melbye,
- Stig Haunsø,
- Ahmad Sajadieh,
- Lu Camp,
- Søren-Peter Olesen,
- Simon Rasmussen,
- Alicia Lundby,
- Patrick T. Ellinor,
- Anders G. Holst,
- Jesper H. Svendsen,
- Morten S. Olesen
Affiliations
- Gustav Ahlberg
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Lena Refsgaard
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Pia R. Lundegaard
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Laura Andreasen
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Mattis F. Ranthe
- Department of Epidemiology Research, Statens Serum Institute
- Nora Linscheid
- Cardiac Proteomics Group, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen
- Jonas B. Nielsen
- Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen
- Mads Melbye
- Department of Epidemiology Research, Statens Serum Institute
- Stig Haunsø
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Ahmad Sajadieh
- Department of Cardiology, Copenhagen University Hospital, Bispebjerg
- Lu Camp
- The Lundbeck Foundation Centre for Applied Medical Genomics in Personalized Disease Prediction, Prevention and Care
- Søren-Peter Olesen
- Department of Biomedical Sciences, University of Copenhagen
- Simon Rasmussen
- Department of Bio and Health Informatics, Technical University of Denmark
- Alicia Lundby
- Cardiac Proteomics Group, Department of Biomedical Sciences, Faculty of Health and Medical Sciences, University of Copenhagen
- Patrick T. Ellinor
- Cardiovascular Research Centre, Massachusetts General Hospital
- Anders G. Holst
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Jesper H. Svendsen
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- Morten S. Olesen
- Laboratory for Molecular Cardiology, Department of Cardiology, The Heart Centre, Rigshospitalet, University Hospital of Copenhagen
- DOI
- https://doi.org/10.1038/s41467-018-06618-y
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 11
Abstract
Common genetic variants in structural proteins contribute to risk of atrial fibrillation (AF). Here, using whole-exome sequencing, the authors identify rare truncating variants in TTN that associate with familial and early-onset AF and show defects in cardiac sarcomere assembly in ttn.2-mutant zebrafish.
