Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

Gareth Hawkes (), Robin N. Beaumont, Zilin Li, Ravi Mandla, Xihao Li, Christine M. Albert, Donna K. Arnett, Allison E. Ashley-Koch, Aneel A. Ashrani, Kathleen C. Barnes, Eric Boerwinkle, Jennifer A. Brody, April P. Carson, Nathalie Chami, Yii- Der Ida Chen, Mina K. Chung, Joanne E. Curran, Dawood Darbar, Patrick T. Ellinor, Myrian Fornage, Victor R. Gordeuk, Xiuqing Guo, Jiang He, Chii-Min Hwu, Rita R. Kalyani, Robert Kaplan, Sharon L. R. Kardia, Charles Kooperberg, Ruth J. F. Loos, Steven A. Lubitz, Ryan L. Minster, Take Naseri, Satupa’itea Viali, Braxton D. Mitchell, Joanne M. Murabito, Nicholette D. Palmer, Bruce M. Psaty, Susan Redline, M. Benjamin Shoemaker, Edwin K. Silverman, Marilyn J. Telen, Scott T. Weiss, Lisa R. Yanek, Hufeng Zhou, Ching-Ti Liu, Kari E. North, Anne E. Justice, Jonathan M. Locke, Nick Owens, Anna Murray, Kashyap Patel, Timothy M. Frayling, Caroline F. Wright, Andrew R. Wood, Xihong Lin, Alisa Manning and Michael N. Weedon ()
Additional contact information
Gareth Hawkes: University of Exeter
Robin N. Beaumont: University of Exeter
Zilin Li: Harvard T.H. Chan School of Public Health
Ravi Mandla: Broad Institute
Xihao Li: University of North Carolina at Chapel Hill
Christine M. Albert: Cedars-Sinai Medical Center
Donna K. Arnett: University of South Carolina
Allison E. Ashley-Koch: Duke University Medical Center
Aneel A. Ashrani: Mayo Clinic Rochester
Kathleen C. Barnes: University of Colorado
Eric Boerwinkle: The University of Texas Health Science Center at Houston
Jennifer A. Brody: University of Washington
April P. Carson: University of Mississippi Medical Center
Nathalie Chami: Icahn School of Medicine at Mount Sinai
Yii- Der Ida Chen: The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Mina K. Chung: Vascular & Thoracic Institute
Joanne E. Curran: The University of Texas Rio Grande Valley
Dawood Darbar: University of Illinois Chicago
Patrick T. Ellinor: Massachusetts General Hospital
Myrian Fornage: The University of Texas Health Science Center at Houston
Victor R. Gordeuk: University of Illinois at Chicago
Xiuqing Guo: The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Jiang He: Tulane University School of Public Health and Tropical Medicine
Chii-Min Hwu: Taipei Veterans General Hospital
Rita R. Kalyani: Johns Hopkins University School of Medicine
Robert Kaplan: Albert Einstein College of Medicine
Sharon L. R. Kardia: University of Michigan
Charles Kooperberg: Fred Hutchinson Cancer Center
Ruth J. F. Loos: Icahn School of Medicine at Mount Sinai
Steven A. Lubitz: Massachusetts General Hospital
Ryan L. Minster: University of Pittsburgh
Take Naseri: Naseri & Associates Public Health Consultancy Firm and Family Health Clinic
Satupa’itea Viali: Oceania University of Medicine
Braxton D. Mitchell: University of Maryland School of Medicine
Joanne M. Murabito: and Blood Institute’s Framingham Heart Study
Nicholette D. Palmer: Winston-
Bruce M. Psaty: University of Washington
Susan Redline: Brigham and Women’s Hospital
M. Benjamin Shoemaker: Vanderbilt University Medical Center
Edwin K. Silverman: Brigham and Women’s Hospital and Harvard Medical School
Marilyn J. Telen: Duke University School of Medicine
Scott T. Weiss: Brigham and Women’s Hospital and Harvard Medical School
Lisa R. Yanek: Johns Hopkins University School of Medicine
Hufeng Zhou: Harvard T.H. Chan School of Public Health
Ching-Ti Liu: Boston University
Kari E. North: University of North Carolina at Chapel Hill
Anne E. Justice: Geisinger
Jonathan M. Locke: University of Exeter
Nick Owens: University of Exeter
Anna Murray: University of Exeter
Kashyap Patel: University of Exeter
Timothy M. Frayling: University of Exeter
Caroline F. Wright: University of Exeter
Andrew R. Wood: University of Exeter
Xihong Lin: Harvard T.H. Chan School of Public Health
Alisa Manning: Broad Institute
Michael N. Weedon: University of Exeter

Nature Communications, 2024, vol. 15, issue 1, 1-11

Abstract: Abstract The role of rare non-coding variation in complex human phenotypes is still largely unknown. To elucidate the impact of rare variants in regulatory elements, we performed a whole-genome sequencing association analysis for height using 333,100 individuals from three datasets: UK Biobank (N = 200,003), TOPMed (N = 87,652) and All of Us (N = 45,445). We performed rare (

Date: 2024
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DOI: 10.1038/s41467-024-52579-w

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