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Genetic Diversity Turns a New PAGE in Our Understanding 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, Chani J Hodonsky, 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, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Karan Vahi, Abhishek Vishnu, Marie Verbanck, Ryan Walker, Kristin L Young, Niha Zubair, Jose Luis Ambite, Eric Boerwinkle, Erwin Bottinger, Carlos D Bustamante, Christian Caberto, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernandez-Rhodes, Myriam Fornage, Gerardo Heiss, Lucia A Hindorff, Rebecca D Jackson, Regina James, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Girish Nadkarni, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabati, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, 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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  • ORCID record for Genevieve L Wojcik
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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Chani J Hodonsky
2University of North Carolina at Chapel Hill, Chapel Hill, NC
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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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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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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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Jose Luis Ambite
11Information Sciences Institute, University of Southern California, Marina del Rey, CA
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Eric Boerwinkle
12Human Genetics Center, School of Public Health, University of Texas, 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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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
2University of North Carolina at Chapel Hill, Chapel Hill, NC
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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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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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Regina James
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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Girish Nadkarni
6Icahn School of Medicine at Mount Sinai, New York, NY
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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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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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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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Summary/Abstract

Genome-wide association studies (GWAS) have laid the foundation for many downstream investigations, including the biology of complex traits, drug development, and clinical guidelines. However, the dominance of European-ancestry populations in GWAS creates a biased view of human variation and hinders the translation of genetic associations into clinical and public health applications. To demonstrate the benefit of studying underrepresented populations, 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 novel strategies for multi-ethnic analysis of admixed populations, we confirm 574 GWAS catalog variants across these traits, and find 28 novel loci and 42 residual signals in known loci. Our data show strong evidence of effect-size heterogeneity across ancestries for published GWAS associations, which substantially restricts genetically-guided precision medicine. We advocate for new, large genome-wide efforts in diverse populations to reduce health disparities.

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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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Posted September 15, 2017.
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Genetic Diversity Turns a New PAGE in Our Understanding 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, Chani J Hodonsky, 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, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Karan Vahi, Abhishek Vishnu, Marie Verbanck, Ryan Walker, Kristin L Young, Niha Zubair, Jose Luis Ambite, Eric Boerwinkle, Erwin Bottinger, Carlos D Bustamante, Christian Caberto, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernandez-Rhodes, Myriam Fornage, Gerardo Heiss, Lucia A Hindorff, Rebecca D Jackson, Regina James, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Girish Nadkarni, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabati, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, 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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Genetic Diversity Turns a New PAGE in Our Understanding 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, Chani J Hodonsky, 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, Michael H Preuss, Melissa A Richard, Claudia Schurmann, Veronica W Setiawan, Karan Vahi, Abhishek Vishnu, Marie Verbanck, Ryan Walker, Kristin L Young, Niha Zubair, Jose Luis Ambite, Eric Boerwinkle, Erwin Bottinger, Carlos D Bustamante, Christian Caberto, Matthew P Conomos, Ewa Deelman, Ron Do, Kimberly Doheny, Lindsay Fernandez-Rhodes, Myriam Fornage, Gerardo Heiss, Lucia A Hindorff, Rebecca D Jackson, Regina James, Cecelia A Laurie, Cathy C Laurie, Yuqing Li, Dan-Yu Lin, Girish Nadkarni, Loreall C Pooler, Alexander P Reiner, Jane Romm, Chiara Sabati, Xin Sheng, Eli A Stahl, Daniel O Stram, Timothy A Thornton, Christina L Wassel, Lynne R Wilkens, 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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