Nature Communications (Nov 2021)
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele
- Shannon Hateley,
- Angelica Lopez-Izquierdo,
- Chuanchau J. Jou,
- Scott Cho,
- Joshua G. Schraiber,
- Shiya Song,
- Colin T. Maguire,
- Natalia Torres,
- Michael Riedel,
- Neil E. Bowles,
- Cammon B. Arrington,
- Brett J. Kennedy,
- Susan P. Etheridge,
- Shuping Lai,
- Chase Pribble,
- Lindsay Meyers,
- Derek Lundahl,
- Jake Byrnes,
- Julie M. Granka,
- Christopher A. Kauffman,
- Gordon Lemmon,
- Steven Boyden,
- W. Scott Watkins,
- Mary Anne Karren,
- Stacey Knight,
- J. Brent Muhlestein,
- John F. Carlquist,
- Jeffrey L. Anderson,
- Kenneth G. Chahine,
- Khushi U. Shah,
- Catherine A. Ball,
- Ivor J. Benjamin,
- Mark Yandell,
- Martin Tristani-Firouzi
Affiliations
- Shannon Hateley
- AncestryDNA
- Angelica Lopez-Izquierdo
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Chuanchau J. Jou
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Scott Cho
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Joshua G. Schraiber
- AncestryDNA
- Shiya Song
- AncestryDNA
- Colin T. Maguire
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Natalia Torres
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Michael Riedel
- Cardiovascular Center, Medical College of Wisconsin
- Neil E. Bowles
- Division of Pediatric Cardiology, University of Utah School of Medicine
- Cammon B. Arrington
- Division of Pediatric Cardiology, University of Utah School of Medicine
- Brett J. Kennedy
- Department of Human Genetics, University of Utah
- Susan P. Etheridge
- Division of Pediatric Cardiology, University of Utah School of Medicine
- Shuping Lai
- Cardiovascular Center, Medical College of Wisconsin
- Chase Pribble
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Lindsay Meyers
- Division of Pediatric Cardiology, University of Utah School of Medicine
- Derek Lundahl
- Division of Pediatric Cardiology, University of Utah School of Medicine
- Jake Byrnes
- AncestryDNA
- Julie M. Granka
- AncestryDNA
- Christopher A. Kauffman
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Gordon Lemmon
- Department of Human Genetics, University of Utah
- Steven Boyden
- Department of Human Genetics, University of Utah
- W. Scott Watkins
- Department of Human Genetics, University of Utah
- Mary Anne Karren
- Department of Human Genetics, University of Utah
- Stacey Knight
- The Intermountain Medical Center
- J. Brent Muhlestein
- The Intermountain Medical Center
- John F. Carlquist
- The Intermountain Medical Center
- Jeffrey L. Anderson
- The Intermountain Medical Center
- Kenneth G. Chahine
- AncestryDNA
- Khushi U. Shah
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- Catherine A. Ball
- AncestryDNA
- Ivor J. Benjamin
- Cardiovascular Center, Medical College of Wisconsin
- Mark Yandell
- Department of Human Genetics, University of Utah
- Martin Tristani-Firouzi
- Nora Eccles Harrison CVRTI, University of Utah School of Medicine
- DOI
- https://doi.org/10.1038/s41467-021-26741-7
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 10
Abstract
Many rare high-impact variants have been associated with disease, but the origins and functional impact are not always explored. Here, the authors trace the ancestry of a rare high impact atrial fibrillation allele in KCNQ1, and use iPSC-derived cardiomyocytes to characterize the effect of the allele.
