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. KocarnikUnhee 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 J.F. Loos, Tara C. Matise, Kari E. North, Ulrike Peters, Eimear E. Kenny, Christopher S. Carlson

Research output: Contribution to journalArticlepeer-review

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 multiethnic 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.

Original languageEnglish (US)
JournalUnknown Journal
DOIs
StatePublished - Sep 15 2017

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • Immunology and Microbiology(all)
  • Neuroscience(all)
  • Pharmacology, Toxicology and Pharmaceutics(all)

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