@article{van Rooij2017, 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. Am J Hum Genet 2017 Jan 5; 100(1):51-63.}, author = {van Rooij, Frank J. A. and Qayyum, Rehan and Smith, Albert V. and Zhou, Yi and Trompet, Stella and Tanaka, Toshiko and Keller, Margaux F. and Chang, Li-Ching and Schmidt, Helena and Yang, Min-Lee and Chen, Ming-Huei and Hayes, James and Johnson, Andrew D. and Yanek, Lisa R. and Mueller, Christian and Lange, Leslie and Floyd, James S. and Ghanbari, Mohsen and Zonderman, Alan B. and Jukema, J. Wouter and Hofman, Albert and van Duijn, Cornelia M. and Desch, Karl C. and Saba, Yasaman and Ozel, Ayse B. and Snively, Beverly M. and Wu, Jer-Yuarn and Schmidt, Reinhold and Fornage, Myriam and Klein, Robert J. and Fox, Caroline S. and Matsuda, Koichi and Kamatani, Naoyuki and Wild, Philipp S. and Stott, David J. and Ford, Ian and Slagboom, P. Eline and Yang, Jaden and Chu, Audrey Y. and Lambert, Amy J. and Uitterlinden, André G. and Franco, Oscar H. and Hofer, Edith and Ginsburg, David and Hu, Bella and Keating, Brendan and Schick, Ursula M. and Brody, Jennifer A. and Li, Jun Z. and Chen, Zhao and Zeller, Tanja and Guralnik, Jack M. and Chasman, Daniel I. and Peters, Luanne L. and Kubo, Michiaki and Becker, Diane M. and Li, Jin and Eiriksdottir, Gudny and Rotter, Jerome I. and Levy, Daniel and Grossmann, Vera and Patel, Kushang V. and Chen, Chien-Hsiun and Ridker, Paul M. and Tang, Hua and Launer, Lenore J. and Rice, Kenneth M. and Li-Gao, Ruifang and Ferrucci, Luigi and Evans, Michelle K. and Choudhuri, Avik and Trompouki, Eirini and Abraham, Brian J. and Yang, Song and Takahashi, Atsushi and Kamatani, Yoichiro and Kooperberg, Charles and Harris, Tamara B. and Jee, Sun Ha and Coresh, Josef and Tsai, Fuu-Jen and Longo, Dan L. and Chen, Yuan-Tsong and Felix, Janine F. and Yang, Qiong and Psaty, Bruce M. and Boerwinkle, Eric and Becker, Lewis C. and Mook-Kanamori, Dennis O. and Wilson, James G. and Gudnason, Vilmundur and O'Donnell, Christopher J. and Dehghan, Abbas and Cupples, L. Adrienne and Nalls, Michael A. and Morris, Andrew P. and Okada, Yukinori and Reiner, Alexander P. and Zon, Leonard I. and Ganesh, Santhi K.}, doi = {10.1016/j.ajhg.2016.11.016}, journal = {American Journal of Human Genetics}, month = {jan}, pages = {51-63}, title = {Genome-wide trans-ethnic meta-analysis Identifies seven genetic loci influencing erythrocyte traits and a role for RBPMS in erythropoiesis}, url = {https://oadoi.org/10.1016/j.ajhg.2016.11.016}, volume = {100}, year = {2017} }