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van Rooij, FJ; Qayyum, R; Smith, AV; Zhou, Y; Trompet, S; Tanaka, T; Keller, MF; Chang, LC; Schmidt, H; Yang, ML; Chen, MH; Hayes, J; Johnson, AD; Yanek, LR; Mueller, C; Lange, L; Floyd, JS; Ghanbari, M; Zonderman, AB; Jukema, JW; Hofman, A; van Duijn, CM; Desch, KC; Saba, Y; Ozel, AB; Snively, BM; Wu, JY; Schmidt, R; Fornage, M; Klein, RJ; Fox, CS; Matsuda, K; Kamatani, N; Wild, PS; Stott, DJ; Ford, I; Slagboom, PE; Yang, J; Chu, AY; Lambert, AJ; Uitterlinden, AG; Franco, OH; Hofer, E; Ginsburg, D; Hu, B; Keating, B; Schick, UM; Brody, JA; Li, JZ; Chen, Z; Zeller, T; Guralnik, JM; Chasman, DI; Peters, LL; Kubo, M; Becker, DM; Li, J; Eiriksdottir, G; Rotter, JI; Levy, D; Grossmann, V; Patel, KV; Chen, CH; BioBank Japan Project; Ridker, PM; Tang, H; Launer, LJ; Rice, KM; Li-Gao, R; Ferrucci, L; Evans, MK; Choudhuri, A; Trompouki, E; Abraham, BJ; Yang, S; Takahashi, A; Kamatani, Y; Kooperberg, C; Harris, TB; Jee, SH; Coresh, J; Tsai, FJ; Longo, DL; Chen, YT; Felix, JF; Yang, Q; Psaty, BM; Boerwinkle, E; Becker, LC; Mook-Kanamori, DO; Wilson, JG; Gudnason, V; O'Donnell, CJ; Dehghan, A; Cupples, LA; Nalls, MA; Morris, AP; Okada, Y; Reiner, AP; Zon, LI; Ganesh, SK.
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
Am J Hum Genet. 2017; 100(1): 51-63. [OPEN ACCESS]
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Autor/innen der Med Uni Graz:
Hofer Edith
Saba Yasaman
Schmidt Helena
Schmidt Reinhold
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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. Copyright © 2017 American Society of Human Genetics. All rights reserved.

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