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

 Frank J.A. van Rooij  ;  Rehan Qayyum  ;  Albert V. Smith  ;  Yi Zhou  ;  Stella Trompet  ;  Toshiko Tanaka  ;  Margaux F. Keller  ;  Li-Ching Chang  ;  Helena Schmidt  ;  Min-Lee Yang  ;  Ming-Huei Chen  ;  James Hayes  ;  Andrew D. Johnson  ;  Lisa R. Yanek  ;  Christian Mueller  ;  Leslie Lange  ;  James S. Floyd  ;  Mohsen Ghanbari  ;  Alan B. Zonderman  ;  J. Wouter Jukema  ;  Albert Hofman  ;  Cornelia M. van Duijn  ;  Karl C. Desch  ;  Yasaman Saba  ;  Ayse B. Ozel  ;  Beverly M. Snively  ;  Jer-Yuarn Wu  ;  Reinhold Schmidt  ;  Myriam Fornage  ;  Robert J. Klein  ;  Caroline S. Fox  ;  Koichi Matsuda  ;  Naoyuki Kamatani  ;  Philipp S. Wild  ;  David J. Stott  ;  Ian Ford  ;  P. Eline Slagboom  ;  Jaden Yang  ;  Audrey Y. Chu  ;  Amy J. Lambert  ;  Andre´ G. Uitterlinden  ;  Oscar H. Franco  ;  Edith Hofer  ;  David Ginsburg  ;  Bella Hu  ;  Brendan Keating  ;  Ursula M. Schick  ;  Jennifer A. Brody  ;  Jun Z. Li 
 AMERICAN JOURNAL OF HUMAN GENETICS, Vol.100(1) : 51-63, 2017 
Journal Title
Issue Date
Africa/ethnology ; Alleles ; Animals ; Bayes Theorem ; Continental Population Groups/genetics* ; Erythrocytes/metabolism* ; Erythropoiesis/genetics* ; Ethnic Groups/genetics ; Europe/ethnology ; Far East/ethnology ; Female ; Genome-Wide Association Study ; Humans ; Linkage Disequilibrium ; Male ; RNA-Binding Proteins/genetics* ; Zebrafish/genetics
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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4. Graduate School of Public Health (보건대학원) > Graduate School of Public Health (보건대학원) > 1. Journal Papers
Yonsei Authors
Jee, Sun Ha(지선하) ORCID logo https://orcid.org/0000-0001-9519-3068
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