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

TitleGenome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
Publication TypeJournal Article
Year of Publication2017
Authorsvan Rooij, FJA, Qayyum, R, Smith, AV, Zhou, Y, Trompet, S, Tanaka, T, Keller, MF, Chang, L-C, Schmidt, H, Yang, M-L, Chen, M-H, Hayes, J, Johnson, AD, Yanek, LR, Mueller, C, Lange, L, Floyd, JS, Ghanbari, M, Zonderman, AB, J Jukema, W, Hofman, A, van Duijn, CM, Desch, KC, Saba, Y, Ozel, AB, Snively, BM, Wu, J-Y, Schmidt, R, Fornage, M, Klein, RJ, Fox, CS, Matsuda, K, Kamatani, N, Wild, PS, Stott, DJ, Ford, I, P Slagboom, E, 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, C-H, 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, SHa, Coresh, J, Tsai, F-J, Longo, DL, Chen, Y-T, Felix, JF, Yang, Q, Psaty, BM, Boerwinkle, E, Becker, LC, Mook-Kanamori, DO, Wilson, JG, Gudnason, V, O'Donnell, CJ, Dehghan, A, Cupples, AL, Nalls, MA, Morris, AP, Okada, Y, Reiner, AP, Zon, LI, Ganesh, SK
Corporate/Institutional AuthorsBioBank Japan Project
JournalAm J Hum Genet
Date Published2017 Jan 05
Abstract<p>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.</p>
Alternate JournalAm. J. Hum. Genet.
PubMed ID28017375
PubMed Central IDPMC5223059
Grant ListP30 DK063491 / DK / NIDDK NIH HHS / United States
R01 HL112642 / HL / NHLBI NIH HHS / United States
R01 HL122684 / HL / NHLBI NIH HHS / United States
UL1 TR000124 / TR / NCATS NIH HHS / United States
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