%0 Journal Article
%T Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis
%A Abbas Dehghan
%A Alan B. Zonderman
%A Albert Hofman
%A Albert V. Smith
%A Alexander P. Reiner
%A Amy J. Lambert
%A Andrew D. Johnson
%A Andrew P. Morris
%A Andr¨¦ G. Uitterlinden
%A Atsushi Takahashi
%A Audrey Y. Chu
%A Avik Choudhuri
%A Ayse B. Ozel
%A Bella Hu
%A Beverly M. Snively
%A Brendan Keating
%A Brian J. Abraham
%A Bruce M. Psaty
%A Caroline S. Fox
%A Charles Kooperberg
%A Chien-Hsiun Chen
%A Christian Mueller
%A Christopher J. O'Donnell
%A Cornelia M. van Duijn
%A Dan L. Longo
%A Daniel I. Chasman
%A Daniel Levy
%A David Ginsburg
%A David J. Stott
%A Dennis O. Mook-Kanamori
%A Diane M. Becker
%A Edith Hofer
%A Eirini Trompouki
%A Eric Boerwinkle
%A Frank J.A. van Rooij
%A Fuu-Jen Tsai
%A Gudny Eiriksdottir
%A Helena Schmidt
%A Hua Tang
%A Ian Ford
%A J. Wouter Jukema
%A Jack M. Guralnik
%A Jaden Yang
%A James G. Wilson
%A James Hayes
%A James S. Floyd
%A Janine F. Felix
%A Jennifer A. Brody
%A Jer-Yuarn Wu
%A Jerome I. Rotter
%A Jin Li
%A Josef Coresh
%A Jun Z. Li
%A Karl C. Desch
%A Kenneth M. Rice
%A Koichi Matsuda
%A Kushang V. Patel
%A L. Adrienne Cupples
%A Lenore J. Launer
%A Leonard I. Zon
%A Leslie Lange
%A Lewis C. Becker
%A Li-Ching Chang
%A Lisa R. Yanek
%A Luanne L. Peters
%A Luigi Ferrucci
%A Margaux F. Keller
%A Michael A. Nalls
%A Michelle K. Evans
%A Michiaki Kubo
%A Min-Lee Yang
%A Ming-Huei Chen
%A Mohsen Ghanbari
%A Myriam Fornage
%A Naoyuki Kamatani
%A Oscar H. Franco
%A P. Eline Slagboom
%A Paul M. Ridker
%A Philipp S. Wild
%A Qiong Yang
%A Rehan Qayyum
%A Reinhold Schmidt
%A Robert J. Klein
%A Ruifang Li-Gao
%A Song Yang
%A Stella Trompet
%A Sun Ha Jee
%A Tamara B. Harris
%A Tanja Zeller
%A The BioBank Japan Project
%A Toshiko Tanaka
%A Ursula M. Schick
%A Vera Grossmann
%A Vilmundur Gudnason
%A Yasaman Saba
%A Yi Zhou
%J Archive of "American Journal of Human Genetics".
%D 2017
%R 10.1016/j.ajhg.2016.11.016
%X 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
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223059/