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

van Rooij, F. J., Qayyum, R., Smith, A. V., Zhou, Y., Trompet, S., Tanaka, T., et al. (2017). Genome-wide Trans-ethnic meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. The American Journal of Human Genetics, 100, 51-63. doi:10.1016/j.ajhg.2016.11.016.

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van Rooij, Frank J.A.1, Author
Qayyum, Rehan1, Author
Smith, Albert V.1, Author
Zhou, Yi1, Author
Trompet, Stella1, Author
Tanaka, Toshiko1, Author
Keller, Margaux F.1, Author
Chang, Li-Ching1, Author
Schmidt, Helena1, Author
Yang, Min-Lee1, Author
Chen, Ming-Huei1, Author
Hayes, James1, Author
Johnson, Andrew D.1, Author
Yanek, Lisa R.1, Author
Mueller, Christian1, Author
Lange, Leslie1, Author
Floyd, James S.1, Author
Ghanbari, Mohsen1, Author
Zonderman, Alan B.1, Author
Jukema, J. Wouter1, Author
Hofman, Albert1, Authorvan Duijn, Cornelia M.1, AuthorDesch, Karl C.1, AuthorSaba, Yasaman1, AuthorOzel, Ayse B.1, AuthorSnively, Beverly M.1, AuthorWu, Jer-Yuarn1, AuthorSchmidt, Reinhold1, AuthorFornage, Myriam1, AuthorKlein, Robert J.1, AuthorFox, Caroline S.1, AuthorMatsuda, Koichi1, AuthorKamatani, Naoyuki1, AuthorWild, Philipp S.1, AuthorStott, David J.1, AuthorFord, Ian1, AuthorSlagboom, P. Eline1, AuthorYang, Jaden1, AuthorChu, Audrey Y.1, AuthorLambert, Amy J.1, AuthorUitterlinden, André G.1, AuthorFranco, Oscar H.1, AuthorHofer, Edith1, AuthorGinsburg, David1, AuthorHu, Bella1, AuthorKeating, Brendan1, AuthorSchick, Ursula M.1, AuthorBrody, Jennifer A.1, AuthorLi, Jun Z.1, AuthorChen, Zhao1, AuthorZeller, Tanja1, AuthorGuralnik, Jack M.1, AuthorChasman, Daniel I.1, AuthorPeters, Luanne L.1, AuthorKubo, Michiaki1, AuthorBecker, Diane M.1, AuthorLi, Jin1, AuthorEiriksdottir, Gudny1, AuthorRotter, Jerome I.1, AuthorLevy, Daniel1, AuthorGrossmann, Vera1, AuthorPatel, Kushang V.1, AuthorChen, Chien-Hsiun1, AuthorProject, The BioBank Japan1, AuthorRidker, Paul M.1, AuthorTang, Hua1, AuthorLauner, Lenore J.1, AuthorRice, Kenneth M.1, AuthorLi-Gao, Ruifang1, AuthorFerrucci, Luigi1, AuthorEvans, Michelle K.1, AuthorChoudhuri, Avik1, AuthorTrompouki, Eirini2, Author           Abraham, Brian J.1, AuthorYang, Song1, AuthorTakahashi, Atsushi1, AuthorKamatani, Yoichiro1, AuthorKooperberg, Charles1, AuthorHarris, Tamara B.1, AuthorJee, Sun Ha1, AuthorCoresh, Josef1, AuthorTsai, Fuu-Jen1, AuthorLongo, Dan L.1, AuthorChen, Yuan-Tsong1, AuthorFelix, Janine F.1, AuthorYang, Qiong1, AuthorPsaty, Bruce M.1, AuthorBoerwinkle, Eric1, AuthorBecker, Lewis C.1, AuthorMook-Kanamori, Dennis O.1, AuthorWilson, James G.1, AuthorGudnason, Vilmundur1, AuthorO'Donnell, Christopher J.1, AuthorDehghan, Abbas1, AuthorCupples, L. Adrienne1, AuthorNalls, Michael A.1, AuthorMorris, Andrew P.1, AuthorOkada, Yukinori1, AuthorReiner, Alexander P.1, AuthorZon, Leonard I.1, AuthorGanesh, Santhi K.1, Author more..
1External Organizations, ou_persistent22              
2Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society, 79108 Freiburg, DE, ou_2243640              


Free keywords: -
 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.


Language(s): eng - English
 Dates: 2017-01-05
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1016/j.ajhg.2016.11.016
 Degree: -



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Title: The American Journal of Human Genetics
  Other : Am. J. Hum. Genet.
Source Genre: Journal
Publ. Info: American Society of Human Genetics
Pages: - Volume / Issue: 100 Sequence Number: - Start / End Page: 51 - 63 Identifier: ISSN: 0002-9297
CoNE: https://pure.mpg.de/cone/journals/resource/954925377893_1