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Elsevier (Cell Press), American Journal of Human Genetics, 1(100), p. 51-63

DOI: 10.1016/j.ajhg.2016.11.016

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Genome-wide trans-ethnic meta-analysis Identifies seven genetic loci influencing erythrocyte traits and a role for RBPMS in erythropoiesis

Journal article published in 2017 by 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 and other authors.
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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. Am J Hum Genet 2017 Jan 5; 100(1):51-63.