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Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis
- van Rooij, Frank JA;
- 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
- et al.
Published Web Location
https://doi.org/10.1016/j.ajhg.2016.11.016Abstract
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.
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