Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Emdin, Connor A.; Khera, Amit V.; Chaffin, Mark; Klarin, Derek; Natarajan, Pradeep; Aragam, Krishna; Haas, Mary; Bick, Alexander; Zekavat, Seyedeh M.; Nomura, Akihiro; Ardissino, Diego; Wilson, James G.; Schunkert, Heribert; McPherson, Ruth; Watkins, Hugh; Elosua, Roberto; Bown, Matthew J.; Samani, Nilesh J.; Baber, Usman; Erdmann, Jeanette; Gupta, Namrata; Danesh, John; Chasman, Daniel; Ridker, Paul; Denny, Joshua; Bastarache, Lisa; Lichtman, Judith H.; D’Onofrio, Gail; Mattera, Jennifer; Spertus, John A.; Sheu, Wayne H.-H.; Taylor, Kent D.; Psaty, Bruce M.; Rich, Stephen S.; Post, Wendy; Rotter, Jerome I.; Der Ida Chen, Yii-; Krumholz, Harlan; Saleheen, Danish; Gabriel, Stacey; Kathiresan, Sekar

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease

Connor A. Emdin, Amit V. Khera, Mark Chaffin, Derek Klarin, Pradeep Natarajan, Krishna Aragam, Mary Haas, Alexander Bick, Seyedeh M. Zekavat, Akihiro Nomura, Diego Ardissino, James G. Wilson, Heribert Schunkert, Ruth McPherson, Hugh Watkins, Roberto Elosua, Matthew J. Bown, Nilesh J. Samani, Usman Baber, Jeanette Erdmann, Namrata Gupta, John Danesh, Daniel Chasman, Paul Ridker, Joshua Denny, Lisa Bastarache, Judith H. Lichtman, Gail D’Onofrio, Jennifer Mattera, John A. Spertus, Wayne H.-H. Sheu, Kent D. Taylor, Bruce M. Psaty, Stephen S. Rich, Wendy Post, Jerome I. Rotter, Yii- Der Ida Chen, Harlan Krumholz, Danish Saleheen, Stacey Gabriel and Sekar Kathiresan ()
Additional contact information
Connor A. Emdin: Harvard Medical School
Amit V. Khera: Harvard Medical School
Mark Chaffin: Harvard Medical School
Derek Klarin: Harvard Medical School
Pradeep Natarajan: Harvard Medical School
Krishna Aragam: Harvard Medical School
Mary Haas: Harvard Medical School
Alexander Bick: Harvard Medical School
Seyedeh M. Zekavat: Harvard Medical School
Akihiro Nomura: Harvard Medical School
Diego Ardissino: Azienda Ospedaliero–Universitaria di Parma
James G. Wilson: University of Mississippi Medical Center
Heribert Schunkert: Deutsches Zentrum für Herz-Kreislauf-Forschung
Ruth McPherson: University of Ottawa Heart Institute
Hugh Watkins: University of Oxford
Roberto Elosua: Hospital del Mar Research Institute
Matthew J. Bown: University of Leicester, and NIHR Leicester Biomedical Research Centre
Nilesh J. Samani: University of Leicester, and NIHR Leicester Biomedical Research Centre
Usman Baber: Icahn School of Medicine at Mount Sinai
Jeanette Erdmann: University of Lübeck
Namrata Gupta: Broad Institute
John Danesh: University of Cambridge
Daniel Chasman: Brigham and Women’s Hospital
Paul Ridker: Brigham and Women’s Hospital
Joshua Denny: Vanderbilt University
Lisa Bastarache: Vanderbilt University
Judith H. Lichtman: Yale School of Public Health
Gail D’Onofrio: Yale University
Jennifer Mattera: Yale–New Haven Hospital
John A. Spertus: University of Missouri-Kansas City
Wayne H.-H. Sheu: Taichung Veterans General Hospital
Kent D. Taylor: LABioMed and Department of Pediatrics at Harbor-UCLA Medical Center
Bruce M. Psaty: University of Washington
Stephen S. Rich: University of Virginia School of Medicine
Wendy Post: Johns Hopkins University School of Medicine
Jerome I. Rotter: LABioMed and Department of Pediatrics at Harbor-UCLA Medical Center
Yii- Der Ida Chen: LABioMed and Department of Pediatrics at Harbor-UCLA Medical Center
Harlan Krumholz: Yale–New Haven Hospital
Danish Saleheen: Center for Non-Communicable Diseases
Stacey Gabriel: Broad Institute
Sekar Kathiresan: Harvard Medical School

Nature Communications, 2018, vol. 9, issue 1, 1-8

Abstract: Abstract Less than 3% of protein-coding genetic variants are predicted to result in loss of protein function through the introduction of a stop codon, frameshift, or the disruption of an essential splice site; however, such predicted loss-of-function (pLOF) variants provide insight into effector transcript and direction of biological effect. In >400,000 UK Biobank participants, we conduct association analyses of 3759 pLOF variants with six metabolic traits, six cardiometabolic diseases, and twelve additional diseases. We identified 18 new low-frequency or rare (allele frequency

Date: 2018
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DOI: 10.1038/s41467-018-03911-8

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