Genome-wide Trans-ethnic meta-analysis Identifies Seven Genetic Loci 
Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

van Rooij, Frank J.A.; Qayyum, Rehan; Smith, Albert V.; Zhou, Yi; Trompet, Stella; Tanaka, Toshiko; Keller, Margaux F.; Chang, Li-Ching; Schmidt, Helena; Yang, Min-Lee; Chen, Ming-Huei; Hayes, James; Johnson, Andrew D.; Yanek, Lisa R.; Mueller, Christian; Lange, Leslie; Floyd, James S.; Ghanbari, Mohsen; Zonderman, Alan B.; Jukema, J. Wouter; Hofman, Albert; van Duijn, Cornelia M.; Desch, Karl C.; Saba, Yasaman; Ozel, Ayse B.; Snively, Beverly M.; Wu, Jer-Yuarn; Schmidt, Reinhold; Fornage, Myriam; Klein, Robert J.; Fox, Caroline S.; Matsuda, Koichi; Kamatani, Naoyuki; Wild, Philipp S.; Stott, David J.; Ford, Ian; Slagboom, P. Eline; Yang, Jaden; Chu, Audrey Y.; Lambert, Amy J.; Uitterlinden, André G.; Franco, Oscar H.; Hofer, Edith; Ginsburg, David; Hu, Bella; Keating, Brendan; Schick, Ursula M.; Brody, Jennifer A.; Li, Jun Z.; Chen, Zhao; Zeller, Tanja; Guralnik, Jack M.; Chasman, Daniel I.; Peters, Luanne L.; Kubo, Michiaki; Becker, Diane M.; Li, Jin; Eiriksdottir, Gudny; Rotter, Jerome I.; Levy, Daniel; Grossmann, Vera; Patel, Kushang V.; Chen, Chien-Hsiun; Project, The BioBank Japan; Ridker, Paul M.; Tang, Hua; Launer, Lenore J.; Rice, Kenneth M.; Li-Gao, Ruifang; Ferrucci, Luigi; Evans, Michelle K.; Choudhuri, Avik; Trompouki, Eirini; Abraham, Brian J.; Yang, Song; Takahashi, Atsushi; Kamatani, Yoichiro; Kooperberg, Charles; Harris, Tamara B.; Jee, Sun Ha; Coresh, Josef; Tsai, Fuu-Jen; Longo, Dan L.; Chen, Yuan-Tsong; Felix, Janine F.; Yang, Qiong; Psaty, Bruce M.; Boerwinkle, Eric; Becker, Lewis C.; Mook-Kanamori, Dennis O.; Wilson, James G.; Gudnason, Vilmundur; O'Donnell, Christopher J.; Dehghan, Abbas; Cupples, L. Adrienne; Nalls, Michael A.; Morris, Andrew P.; Okada, Yukinori; Reiner, Alexander P.; Zon, Leonard I.; Ganesh, Santhi K.

doi:10.1016/j.ajhg.2016.11.016

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Genome-wide Trans-ethnic meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

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Trompouki, Eirini
Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society;

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https://www.sciencedirect.com/science/article/pii/S0002929716305201?via%3Dihub
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Citation

van Rooij, F. J., Qayyum, R., Smith, A. V., Zhou, Y., Trompet, S., Tanaka, T., et al. (2017). Genome-wide Trans-ethnic meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. The American Journal of Human Genetics, 100, 51-63. doi:10.1016/j.ajhg.2016.11.016.

Cite as: https://hdl.handle.net/11858/00-001M-0000-002E-88CD-3

Abstract

Genome-wide association studies (GWASs) have identified loci for erythrocyte traits in primarily European ancestry populations. We conducted GWAS meta-analyses of six erythrocyte traits in 71,638 individuals from European, East Asian, and African ancestries using a Bayesian approach to account for heterogeneity in allelic effects and variation in the structure of linkage disequilibrium between ethnicities. We identified seven loci for erythrocyte traits including a locus (RBPMS/GTF2E2) associated with mean corpuscular hemoglobin and mean corpuscular volume. Statistical fine-mapping at this locus pointed to RBPMS at this locus and excluded nearby GTF2E2. Using zebrafish morpholino to evaluate loss of function, we observed a strong in vivo erythropoietic effect for RBPMS but not for GTF2E2, supporting the statistical fine-mapping at this locus and demonstrating that RBPMS is a regulator of erythropoiesis. Our findings show the utility of trans-ethnic GWASs for discovery and characterization of genetic loci influencing hematologic traits.