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The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits

View ORCID ProfileGenevieve L Wojcik, Mariaelisa Graff, Katherine K Nishimura, Ran Tao, Jeffrey Haessler, Christopher R Gignoux, Heather M Highland, Yesha M Patel, Elena P Sorokin, Christy L Avery, Gillian M Belbin, Stephanie A Bien, Iona Cheng, Sinead Cullina, Chani J Hodonsky, Yao Hu, Laura M Huckins, Janina Jeff, Anne E Justice, Jonathan M Kocarnik, Unhee Lim, Bridget M Lin, Yingchang Lu, Sarah C Nelson, Sung-Shim L Park, Hannah Poisner, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Alexandra Sockell, Karan Vahi, Abhishek Vishnu, Marie Verbanck, Ryan Walker, Kristin L Young, Niha Zubair, Victor Acuna-Alonso, Jose Luis Ambite, Kathleen C Barnes, Eric Boerwinkle, Erwin Bottinger, Carlos D Bustamante, Christian Caberto, Samuel Canizales-Quinteroes, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernandez-Rhodes, Myriam Fornage, Gerardo Heiss, Brenna Henn, Lucia A Hindorff, Rebecca D Jackson, Benyam Hailu, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Andres Moreno-Estrada, Girish Nadkarni, Paul Norman, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabati, Karla Sandoval, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, Cheryl A Winkler, Sachi Yoneyama, Steven Buyske, Chris Haiman, Charles Kooperberg, Loic Le Marchand, Ruth JF Loos, Tara C Matise, Kari E North, Ulrike Peters, Eimear E Kenny, Christopher S Carlson
doi: https://doi.org/10.1101/188094
Genevieve L Wojcik
1Stanford University, Stanford CA
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Mariaelisa Graff
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Katherine K Nishimura
3Fred Hutchinson Cancer Research Center, Seattle WA
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Ran Tao
4Vanderbilt University Medical Center, Nashville TN
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Jeffrey Haessler
3Fred Hutchinson Cancer Research Center, Seattle WA
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Christopher R Gignoux
1Stanford University, Stanford CA
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Heather M Highland
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Yesha M Patel
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Elena P Sorokin
1Stanford University, Stanford CA
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Christy L Avery
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Gillian M Belbin
6Icahn School of Medicine at Mount Sinai, New York NY
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Stephanie A Bien
3Fred Hutchinson Cancer Research Center, Seattle WA
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Iona Cheng
7Cancer Prevention Institute of California, Fremont CA
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Sinead Cullina
6Icahn School of Medicine at Mount Sinai, New York NY
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Chani J Hodonsky
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Yao Hu
3Fred Hutchinson Cancer Research Center, Seattle WA
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Laura M Huckins
6Icahn School of Medicine at Mount Sinai, New York NY
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Janina Jeff
6Icahn School of Medicine at Mount Sinai, New York NY
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Anne E Justice
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Jonathan M Kocarnik
3Fred Hutchinson Cancer Research Center, Seattle WA
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Unhee Lim
8University of Hawaii Cancer Center, Honolulu HI
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Bridget M Lin
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Yingchang Lu
6Icahn School of Medicine at Mount Sinai, New York NY
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Sarah C Nelson
9University of Washington, Seattle WA
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Sung-Shim L Park
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Hannah Poisner
6Icahn School of Medicine at Mount Sinai, New York NY
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Michael H Preuss
6Icahn School of Medicine at Mount Sinai, New York NY
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Melissa A Richard
10Brown Foundation Institute for Molecular Medicine, The University of Texas Health Science Center, Houston TX
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Claudia Schurmann
6Icahn School of Medicine at Mount Sinai, New York NY
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Veronica W Setiawan
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Alexandra Sockell
1Stanford University, Stanford CA
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Karan Vahi
11Information Sciences Institute, University of Southern California, Marina del Rey CA
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Abhishek Vishnu
6Icahn School of Medicine at Mount Sinai, New York NY
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Marie Verbanck
6Icahn School of Medicine at Mount Sinai, New York NY
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Ryan Walker
6Icahn School of Medicine at Mount Sinai, New York NY
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Kristin L Young
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Niha Zubair
3Fred Hutchinson Cancer Research Center, Seattle WA
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Victor Acuna-Alonso
20Escuela Nacional de Antropologia e Historia, Mexico
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Jose Luis Ambite
11Information Sciences Institute, University of Southern California, Marina del Rey CA
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Kathleen C Barnes
21University of Colorado, Anschutz Medical Campus, Denver CO
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Eric Boerwinkle
12Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston TX
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Erwin Bottinger
6Icahn School of Medicine at Mount Sinai, New York NY
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Carlos D Bustamante
1Stanford University, Stanford CA
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Christian Caberto
13University of Hawaii, Honolulu HI
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Samuel Canizales-Quinteroes
22Instituto Nacional de Medicina Genómica, Mexico
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Matthew P Conomos
9University of Washington, Seattle WA
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Ewa Deelman
11Information Sciences Institute, University of Southern California, Marina del Rey CA
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Ron Do
6Icahn School of Medicine at Mount Sinai, New York NY
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Kimberly Doheny
14Johns Hopkins University, Baltimore MD
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Lindsay Fernandez-Rhodes
23The Pennsylvania State University, University Park, PA
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Myriam Fornage
10Brown Foundation Institute for Molecular Medicine, The University of Texas Health Science Center, Houston TX
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Gerardo Heiss
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Brenna Henn
24University of California, Davis CA
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Lucia A Hindorff
15NIH National Human Genome Research Institute, Bethesda MD
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Rebecca D Jackson
16Ohio State Medical Center, Columbus OH
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Benyam Hailu
17NIH National Institute on Minority Health and Health Disparities, Bethesda MD
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Cecelia A Laurie
9University of Washington, Seattle WA
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Cathy C Laurie
9University of Washington, Seattle WA
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Yuqing Li
7Cancer Prevention Institute of California, Fremont CA
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Dan-Yu Lin
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Andres Moreno-Estrada
25National Laboratory of Genomics for Biodiversity (UGA-LANGEBIO), CINVESTAV-Irapuato, Mexico
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Girish Nadkarni
6Icahn School of Medicine at Mount Sinai, New York NY
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Paul Norman
21University of Colorado, Anschutz Medical Campus, Denver CO
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Loreall C Pooler
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Alexander P Reiner
9University of Washington, Seattle WA
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Jane Romm
14Johns Hopkins University, Baltimore MD
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Chiara Sabati
1Stanford University, Stanford CA
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Karla Sandoval
25National Laboratory of Genomics for Biodiversity (UGA-LANGEBIO), CINVESTAV-Irapuato, Mexico
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Xin Sheng
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Eli A Stahl
6Icahn School of Medicine at Mount Sinai, New York NY
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Daniel O Stram
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Timothy A Thornton
9University of Washington, Seattle WA
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Christina L Wassel
18University of Vermont College of Medicine, Burlington VT
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Lynne R Wilkens
13University of Hawaii, Honolulu HI
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Cheryl A Winkler
26Frederick National Laboratory, Frederick MA
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Sachi Yoneyama
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Steven Buyske
19Rutgers University, New Brunswick NJ
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Chris Haiman
5Keck School of Medicine, University of Southern California, Los Angeles CA
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Charles Kooperberg
3Fred Hutchinson Cancer Research Center, Seattle WA
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Loic Le Marchand
13University of Hawaii, Honolulu HI
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Ruth JF Loos
6Icahn School of Medicine at Mount Sinai, New York NY
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Tara C Matise
19Rutgers University, New Brunswick NJ
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Kari E North
2University of North Carolina at Chapel Hill, Chapel Hill NC
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Ulrike Peters
3Fred Hutchinson Cancer Research Center, Seattle WA
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Eimear E Kenny
6Icahn School of Medicine at Mount Sinai, New York NY
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Christopher S Carlson
3Fred Hutchinson Cancer Research Center, Seattle WA
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  • Abstract
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Summary/Abstract

Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development, and clinical guidelines. However, the dominance of European-ancestry populations in GWAS creates a biased view of the role of human variation in disease, and hinders the equitable translation of genetic associations into clinical and public health applications. The Population Architecture using Genomics and Epidemiology (PAGE) study conducted a GWAS of 26 clinical and behavioral phenotypes in 49,839 non-European individuals. Using strategies designed for analysis of multi-ethnic and admixed populations, we confirm 574 GWAS catalog variants across these traits, and find 38 secondary signals in known loci and 27 novel loci. Our data shows strong evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts, and insights into clinical implications. We strongly advocate for continued, large genome-wide efforts in diverse populations to reduce health disparities.

Footnotes

  • ↵* Shared first authorship

  • ↵‡ Shared senior authorship

  • ↵* Corresponding authorship

Copyright 
The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under a CC-BY-ND 4.0 International license.
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The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits
Genevieve L Wojcik, Mariaelisa Graff, Katherine K Nishimura, Ran Tao, Jeffrey Haessler, Christopher R Gignoux, Heather M Highland, Yesha M Patel, Elena P Sorokin, Christy L Avery, Gillian M Belbin, Stephanie A Bien, Iona Cheng, Sinead Cullina, Chani J Hodonsky, Yao Hu, Laura M Huckins, Janina Jeff, Anne E Justice, Jonathan M Kocarnik, Unhee Lim, Bridget M Lin, Yingchang Lu, Sarah C Nelson, Sung-Shim L Park, Hannah Poisner, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Alexandra Sockell, Karan Vahi, Abhishek Vishnu, Marie Verbanck, Ryan Walker, Kristin L Young, Niha Zubair, Victor Acuna-Alonso, Jose Luis Ambite, Kathleen C Barnes, Eric Boerwinkle, Erwin Bottinger, Carlos D Bustamante, Christian Caberto, Samuel Canizales-Quinteroes, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernandez-Rhodes, Myriam Fornage, Gerardo Heiss, Brenna Henn, Lucia A Hindorff, Rebecca D Jackson, Benyam Hailu, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Andres Moreno-Estrada, Girish Nadkarni, Paul Norman, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabati, Karla Sandoval, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, Cheryl A Winkler, Sachi Yoneyama, Steven Buyske, Chris Haiman, Charles Kooperberg, Loic Le Marchand, Ruth JF Loos, Tara C Matise, Kari E North, Ulrike Peters, Eimear E Kenny, Christopher S Carlson
bioRxiv 188094; doi: https://doi.org/10.1101/188094
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The PAGE Study: How Genetic Diversity Improves Our Understanding of the Architecture of Complex Traits
Genevieve L Wojcik, Mariaelisa Graff, Katherine K Nishimura, Ran Tao, Jeffrey Haessler, Christopher R Gignoux, Heather M Highland, Yesha M Patel, Elena P Sorokin, Christy L Avery, Gillian M Belbin, Stephanie A Bien, Iona Cheng, Sinead Cullina, Chani J Hodonsky, Yao Hu, Laura M Huckins, Janina Jeff, Anne E Justice, Jonathan M Kocarnik, Unhee Lim, Bridget M Lin, Yingchang Lu, Sarah C Nelson, Sung-Shim L Park, Hannah Poisner, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Alexandra Sockell, Karan Vahi, Abhishek Vishnu, Marie Verbanck, Ryan Walker, Kristin L Young, Niha Zubair, Victor Acuna-Alonso, Jose Luis Ambite, Kathleen C Barnes, Eric Boerwinkle, Erwin Bottinger, Carlos D Bustamante, Christian Caberto, Samuel Canizales-Quinteroes, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernandez-Rhodes, Myriam Fornage, Gerardo Heiss, Brenna Henn, Lucia A Hindorff, Rebecca D Jackson, Benyam Hailu, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Andres Moreno-Estrada, Girish Nadkarni, Paul Norman, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabati, Karla Sandoval, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, Cheryl A Winkler, Sachi Yoneyama, Steven Buyske, Chris Haiman, Charles Kooperberg, Loic Le Marchand, Ruth JF Loos, Tara C Matise, Kari E North, Ulrike Peters, Eimear E Kenny, Christopher S Carlson
bioRxiv 188094; doi: https://doi.org/10.1101/188094

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