Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele

Zhang, Xinruo; Brody, Jennifer A.; Graff, Mariaelisa; Highland, Heather M.; Chami, Nathalie; Xu, Hanfei; Wang, Zhe; Ferrier, Kendra R.; Chittoor, Geetha; Josyula, Navya Shilpa; Meyer, Mariah; Gupta, Shreyash; Li, Xihao; Li, Zilin; Allison, Matthew A.; Becker, Diane M.; Bielak, Lawrence F.; Bis, Joshua C.; Boorgula, Meher Preethi; Bowden, Donald W.; Broome, Jai G.; Buth, Erin J.; Carlson, Christopher S.; Chang, Kyong-Mi; Chavan, Sameer; Chiu, Yen-Feng; Chuang, Lee-Ming; Conomos, Matthew P.; DeMeo, Dawn L.; Du, Mengmeng; Duggirala, Ravindranath; Eng, Celeste; Fohner, Alison E.; Freedman, Barry I.; Garrett, Melanie E.; Guo, Xiuqing; Haiman, Chris; Heavner, Benjamin D.; Hidalgo, Bertha; Hixson, James E.; Ho, Yuk-Lam; Hobbs, Brian D.; Hu, Donglei; Hui, Qin; Hwu, Chii-Min; Jackson, Rebecca D.; Jain, Deepti; Kalyani, Rita R.; Kardia, Sharon L. R.; Kelly, Tanika N.; Lange, Ethan M.; LeNoir, Michael; Li, Changwei; Marchand, Loic; McDonald, Merry-Lynn N.; McHugh, Caitlin P.; Morrison, Alanna C.; Naseri, Take; O’Connell, Jeffrey; O’Donnell, Christopher J.; Palmer, Nicholette D.; Pankow, James S.; Perry, James A.; Peters, Ulrike; Preuss, Michael H.; Rao, D. C.; Regan, Elizabeth A.; Reupena, Sefuiva M.; Roden, Dan M.; Rodriguez-Santana, Jose; Sitlani, Colleen M.; Smith, Jennifer A.; Tiwari, Hemant K.; Vasan, Ramachandran S.; Wang, Zeyuan; Weeks, Daniel E.; Wessel, Jennifer; Wiggins, Kerri L.; Wilkens, Lynne R.; Wilson, Peter W. F.; Yanek, Lisa R.; Yoneda, Zachary T.; Zhao, Wei; Zöllner, Sebastian; Arnett, Donna K.; Ashley-Koch, Allison E.; Barnes, Kathleen C.; Blangero, John; Boerwinkle, Eric; Burchard, Esteban G.; Carson, April P.; Chasman, Daniel I.; Der Ida Chen, Yii-; Curran, Joanne E.; Fornage, Myriam; Gordeuk, Victor R.; He, Jiang; Heckbert, Susan R.; Hou, Lifang; Irvin, Marguerite R.; Kooperberg, Charles; Minster, Ryan L.; Mitchell, Braxton D.; Nouraie, Mehdi; Psaty, Bruce M.; Raffield, Laura M.; Reiner, Alexander P.; Rich, Stephen S.; Rotter, Jerome I.; Shoemaker, M. Benjamin; Smith, Nicholas L.; Taylor, Kent D.; Telen, Marilyn J.; Weiss, Scott T.; Zhang, Yingze; Heard-Costa, Nancy; Sun, Yan V.; Lin, Xihong; Cupples, L. Adrienne; Lange, Leslie A.; Liu, Ching-Ti; Loos, Ruth J. F.; North, Kari E.; Justice, Anne E.

Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele

Xinruo Zhang (), Jennifer A. Brody, Mariaelisa Graff, Heather M. Highland, Nathalie Chami, Hanfei Xu, Zhe Wang, Kendra R. Ferrier, Geetha Chittoor, Navya Shilpa Josyula, Mariah Meyer, Shreyash Gupta, Xihao Li, Zilin Li, Matthew A. Allison, Diane M. Becker, Lawrence F. Bielak, Joshua C. Bis, Meher Preethi Boorgula, Donald W. Bowden, Jai G. Broome, Erin J. Buth, Christopher S. Carlson, Kyong-Mi Chang, Sameer Chavan, Yen-Feng Chiu, Lee-Ming Chuang, Matthew P. Conomos, Dawn L. DeMeo, Mengmeng Du, Ravindranath Duggirala, Celeste Eng, Alison E. Fohner, Barry I. Freedman, Melanie E. Garrett, Xiuqing Guo, Chris Haiman, Benjamin D. Heavner, Bertha Hidalgo, James E. Hixson, Yuk-Lam Ho, Brian D. Hobbs, Donglei Hu, Qin Hui, Chii-Min Hwu, Rebecca D. Jackson, Deepti Jain, Rita R. Kalyani, Sharon L. R. Kardia, Tanika N. Kelly, Ethan M. Lange, Michael LeNoir, Changwei Li, Loic Marchand, Merry-Lynn N. McDonald, Caitlin P. McHugh, Alanna C. Morrison, Take Naseri, Jeffrey O’Connell, Christopher J. O’Donnell, Nicholette D. Palmer, James S. Pankow, James A. Perry, Ulrike Peters, Michael H. Preuss, D. C. Rao, Elizabeth A. Regan, Sefuiva M. Reupena, Dan M. Roden, Jose Rodriguez-Santana, Colleen M. Sitlani, Jennifer A. Smith, Hemant K. Tiwari, Ramachandran S. Vasan, Zeyuan Wang, Daniel E. Weeks, Jennifer Wessel, Kerri L. Wiggins, Lynne R. Wilkens, Peter W. F. Wilson, Lisa R. Yanek, Zachary T. Yoneda, Wei Zhao, Sebastian Zöllner, Donna K. Arnett, Allison E. Ashley-Koch, Kathleen C. Barnes, John Blangero, Eric Boerwinkle, Esteban G. Burchard, April P. Carson, Daniel I. Chasman, Yii- Der Ida Chen, Joanne E. Curran, Myriam Fornage, Victor R. Gordeuk, Jiang He, Susan R. Heckbert, Lifang Hou, Marguerite R. Irvin, Charles Kooperberg, Ryan L. Minster, Braxton D. Mitchell, Mehdi Nouraie, Bruce M. Psaty, Laura M. Raffield, Alexander P. Reiner, Stephen S. Rich, Jerome I. Rotter, M. Benjamin Shoemaker, Nicholas L. Smith, Kent D. Taylor, Marilyn J. Telen, Scott T. Weiss, Yingze Zhang, Nancy Heard-Costa, Yan V. Sun, Xihong Lin, L. Adrienne Cupples, Leslie A. Lange, Ching-Ti Liu, Ruth J. F. Loos, Kari E. North and Anne E. Justice ()
Additional contact information
Xinruo Zhang: University of North Carolina at Chapel Hill
Jennifer A. Brody: University of Washington
Mariaelisa Graff: University of North Carolina at Chapel Hill
Heather M. Highland: University of North Carolina at Chapel Hill
Nathalie Chami: Icahn School of Medicine at Mount Sinai
Hanfei Xu: Boston University
Zhe Wang: Icahn School of Medicine at Mount Sinai
Kendra R. Ferrier: University of Colorado School of Medicine, Anschutz Medical Campus
Geetha Chittoor: Geisinger
Navya Shilpa Josyula: Geisinger
Mariah Meyer: University of Colorado School of Medicine, Anschutz Medical Campus
Shreyash Gupta: Geisinger
Xihao Li: Harvard T.H. Chan School of Public Health
Zilin Li: Indiana University School of Medicine
Matthew A. Allison: The University of California San Diego
Diane M. Becker: Johns Hopkins University School of Medicine
Lawrence F. Bielak: University of Michigan
Joshua C. Bis: University of Washington
Meher Preethi Boorgula: University of Colorado School of Medicine
Donald W. Bowden: Wake Forest School of Medicine
Jai G. Broome: University of Washington
Erin J. Buth: University of Washington
Christopher S. Carlson: Fred Hutchinson Cancer Center
Kyong-Mi Chang: The Corporal Michael J. Crescenz VA Medical Center
Sameer Chavan: University of Colorado School of Medicine
Yen-Feng Chiu: National Health Research Institutes
Lee-Ming Chuang: National Taiwan University Hospital
Matthew P. Conomos: University of Washington
Dawn L. DeMeo: Harvard Medical School
Mengmeng Du: Memorial Sloan Kettering Cancer Center
Ravindranath Duggirala: Texas A&M University-San Antonio
Celeste Eng: University of California, San Francisco
Alison E. Fohner: University of Washington
Barry I. Freedman: Wake Forest School of Medicine
Melanie E. Garrett: Duke University Medical Center
Xiuqing Guo: The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Chris Haiman: University of Southern California
Benjamin D. Heavner: University of Washington
Bertha Hidalgo: University of Alabama at Birmingham School of Public Health
James E. Hixson: UTHealth Houston
Yuk-Lam Ho: Veterans Affairs Boston Healthcare System
Brian D. Hobbs: Harvard Medical School
Donglei Hu: University of California, San Francisco
Qin Hui: Emory University Rollins School of Public Health
Chii-Min Hwu: Taipei Veterans General Hospital
Rebecca D. Jackson: Ohio State University
Deepti Jain: University of Washington
Rita R. Kalyani: Johns Hopkins University School of Medicine
Sharon L. R. Kardia: University of Michigan
Tanika N. Kelly: Tulane University
Ethan M. Lange: University of Colorado School of Medicine, Anschutz Medical Campus
Michael LeNoir: Bay Area Pediatrics
Changwei Li: Tulane University
Loic Marchand: University of Hawaii Cancer Center
Merry-Lynn N. McDonald: University of Alabama at Birmingham
Caitlin P. McHugh: University of Washington
Alanna C. Morrison: The University of Texas Health Science Center at Houston
Take Naseri: Naseri & Associates Public Health Consultancy Firm and Family Health Clinic
Jeffrey O’Connell: University of Maryland
Christopher J. O’Donnell: Veterans Affairs Boston Healthcare System
Nicholette D. Palmer: Wake Forest School of Medicine
James S. Pankow: University of Minnesota
James A. Perry: University of Maryland
Ulrike Peters: Fred Hutchinson Cancer Center
Michael H. Preuss: Icahn School of Medicine at Mount Sinai
D. C. Rao: Washington University in St. Louis
Elizabeth A. Regan: National Jewish Health
Sefuiva M. Reupena: Lutia i Puava ae Mapu i Fagalele
Dan M. Roden: Vanderbilt University Medical Center
Jose Rodriguez-Santana: Centro de Neumologia Pediatrica
Colleen M. Sitlani: University of Washington
Jennifer A. Smith: University of Michigan
Hemant K. Tiwari: University of Alabama at Birmingham School of Public Health
Ramachandran S. Vasan: Boston University
Zeyuan Wang: Emory University Rollins School of Public Health
Daniel E. Weeks: University of Pittsburgh
Jennifer Wessel: Indiana University
Kerri L. Wiggins: University of Washington
Lynne R. Wilkens: University of Hawaii Cancer Center
Peter W. F. Wilson: Atlanta VA Health Care System
Lisa R. Yanek: Johns Hopkins University School of Medicine
Zachary T. Yoneda: Vanderbilt University Medical Center
Wei Zhao: University of Michigan
Sebastian Zöllner: University of Michigan
Donna K. Arnett: University of South Carolina
Allison E. Ashley-Koch: Duke University Medical Center
Kathleen C. Barnes: University of Colorado School of Medicine
John Blangero: University of Texas Rio Grande Valley
Eric Boerwinkle: The University of Texas Health Science Center at Houston
Esteban G. Burchard: University of California, San Francisco
April P. Carson: University of Mississippi Medical Center
Daniel I. Chasman: Brigham and Women’s Hospital
Yii- Der Ida Chen: Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Joanne E. Curran: University of Texas Rio Grande Valley
Myriam Fornage: The University of Texas Health Science Center at Houston
Victor R. Gordeuk: University of Illinois at Chicago
Jiang He: Tulane University
Susan R. Heckbert: University of Washington
Lifang Hou: Northwestern University
Marguerite R. Irvin: University of Alabama at Birmingham School of Public Health
Charles Kooperberg: Fred Hutchinson Cancer Center
Ryan L. Minster: University of Pittsburgh
Braxton D. Mitchell: University of Maryland
Mehdi Nouraie: University of Pittsburgh
Bruce M. Psaty: University of Washington
Laura M. Raffield: University of North Carolina at Chapel Hill
Alexander P. Reiner: University of Washington
Stephen S. Rich: University of Virginia
Jerome I. Rotter: The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
M. Benjamin Shoemaker: Vanderbilt University Medical Center
Nicholas L. Smith: University of Washington
Kent D. Taylor: The Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center
Marilyn J. Telen: Duke University School of Medical
Scott T. Weiss: Harvard Medical School
Yingze Zhang: University of Pittsburgh
Nancy Heard-Costa: Boston University Chobanian & Avedisian School of Medicine
Yan V. Sun: Emory University Rollins School of Public Health
Xihong Lin: Harvard T.H. Chan School of Public Health
L. Adrienne Cupples: Boston University
Leslie A. Lange: University of Colorado School of Medicine, Anschutz Medical Campus
Ching-Ti Liu: Boston University
Ruth J. F. Loos: Icahn School of Medicine at Mount Sinai
Kari E. North: University of North Carolina at Chapel Hill
Anne E. Justice: Geisinger

Nature Communications, 2025, vol. 16, issue 1, 1-15

Abstract: Abstract Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-genome sequencing (WGS) data from 88,873 participants from the Trans-Omics for Precision Medicine (TOPMed) Program, of which 51% were of non-European population groups. We discovered 18 BMI-associated signals (P

Date: 2025
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DOI: 10.1038/s41467-025-58420-2

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