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

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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, Frank J A; Qayyum, Rehan; Smith, Albert V; Zhou, Yi; Trompet, Stella; Tanaka, Toshiko; Keller, Margaux F; Chang, Li-Ching; Schmidt, Helena; Yang, Min-Lee; Chen, Ming-Huei; Hayes, James; Johnson, Andrew D; Yanek, Lisa R; Mueller, Christian; Lange, Leslie; Floyd, James S; Ghanbari, Mohsen; Zonderman, Alan B; Jukema, J Wouter; Hofman, Albert; van Duijn, Cornelia M; Desch, Karl C; Saba, Yasaman; Ozel, Ayse B; Snively, Beverly M; Wu, Jer-Yuarn; Schmidt, Reinhold; Fornage, Myriam; Klein, Robert J; Fox, Caroline S; Matsuda, Koichi; Kamatani, Naoyuki; Wild, Philipp S; Stott, David J; Ford, Ian; Slagboom, P Eline; Yang, Jaden; Chu, Audrey Y; Lambert, Amy J; Uitterlinden, André G; Franco, Oscar H; Hofer, Edith; Ginsburg, David; Hu, Bella; Keating, Brendan; Schick, Ursula M; Brody, Jennifer A; Li, Jun Z; Chen, Zhao; Zeller, Tanja; Guralnik, Jack M; Chasman, Daniel I; Peters, Luanne L; Kubo, Michiaki; Becker, Diane M; Li, Jin; Eiriksdottir, Gudny; Rotter, Jerome I; Levy, Daniel; Grossmann, Vera; Patel, Kushang V; Chen, Chien-Hsiun; Ridker, Paul M; Tang, Hua; Launer, Lenore J; Rice, Kenneth M; Li-Gao, Ruifang; Ferrucci, Luigi; Evans, Michelle K; Choudhuri, Avik; Trompouki, Eirini; Abraham, Brian J; Yang, Song; Takahashi, Atsushi; Kamatani, Yoichiro; Kooperberg, Charles; Harris, Tamara B; Jee, Sun Ha; Coresh, Josef; Tsai, Fuu-Jen; Longo, Dan L; Chen, Yuan-Tsong; Felix, Janine F; Yang, Qiong; Psaty, Bruce M; Boerwinkle, Eric; Becker, Lewis C; Mook-Kanamori, Dennis O; Wilson, James G; Gudnason, Vilmundur; O'Donnell, Christopher J; Dehghan, Abbas; Cupples, L Adrienne; Nalls, Michael A; Morris, Andrew P; Okada, Yukinori; Reiner, Alexander P; Zon, Leonard I; Ganesh, Santhi K; BioBank Japan Project.

in: AM J HUM GENET, Jahrgang 100, Nr. 1, 05.01.2017, S. 51-63.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

van Rooij, FJA, Qayyum, R, Smith, AV, Zhou, Y, Trompet, S, Tanaka, T, Keller, MF, Chang, L-C, Schmidt, H, Yang, M-L, Chen, M-H, Hayes, J, Johnson, AD, Yanek, LR, Mueller, C, Lange, L, Floyd, JS, Ghanbari, M, Zonderman, AB, Jukema, JW, Hofman, A, van Duijn, CM, Desch, KC, Saba, Y, Ozel, AB, Snively, BM, Wu, J-Y, Schmidt, R, Fornage, M, Klein, RJ, Fox, CS, Matsuda, K, Kamatani, N, Wild, PS, Stott, DJ, Ford, I, Slagboom, PE, Yang, J, Chu, AY, Lambert, AJ, Uitterlinden, AG, Franco, OH, Hofer, E, Ginsburg, D, Hu, B, Keating, B, Schick, UM, Brody, JA, Li, JZ, Chen, Z, Zeller, T, Guralnik, JM, Chasman, DI, Peters, LL, Kubo, M, Becker, DM, Li, J, Eiriksdottir, G, Rotter, JI, Levy, D, Grossmann, V, Patel, KV, Chen, C-H, Ridker, PM, Tang, H, Launer, LJ, Rice, KM, Li-Gao, R, Ferrucci, L, Evans, MK, Choudhuri, A, Trompouki, E, Abraham, BJ, Yang, S, Takahashi, A, Kamatani, Y, Kooperberg, C, Harris, TB, Jee, SH, Coresh, J, Tsai, F-J, Longo, DL, Chen, Y-T, Felix, JF, Yang, Q, Psaty, BM, Boerwinkle, E, Becker, LC, Mook-Kanamori, DO, Wilson, JG, Gudnason, V, O'Donnell, CJ, Dehghan, A, Cupples, LA, Nalls, MA, Morris, AP, Okada, Y, Reiner, AP, Zon, LI, Ganesh, SK & BioBank Japan Project 2017, 'Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis', AM J HUM GENET, Jg. 100, Nr. 1, S. 51-63. https://doi.org/10.1016/j.ajhg.2016.11.016

APA

van Rooij, F. J. A., Qayyum, R., Smith, A. V., Zhou, Y., Trompet, S., Tanaka, T., Keller, M. F., Chang, L-C., Schmidt, H., Yang, M-L., Chen, M-H., Hayes, J., Johnson, A. D., Yanek, L. R., Mueller, C., Lange, L., Floyd, J. S., Ghanbari, M., Zonderman, A. B., ... BioBank Japan Project (2017). Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. AM J HUM GENET, 100(1), 51-63. https://doi.org/10.1016/j.ajhg.2016.11.016

Vancouver

van Rooij FJA, Qayyum R, Smith AV, Zhou Y, Trompet S, Tanaka T et al. Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis. AM J HUM GENET. 2017 Jan 5;100(1):51-63. https://doi.org/10.1016/j.ajhg.2016.11.016

Bibtex

@article{b4d4f11612694f12b3f1f98157347993,
title = "Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis",
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.",
keywords = "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",
author = "{van Rooij}, {Frank J A} and Rehan Qayyum and Smith, {Albert V} and Yi Zhou and Stella Trompet and Toshiko Tanaka and Keller, {Margaux F} and Li-Ching Chang and Helena Schmidt and Min-Lee Yang and Ming-Huei Chen and James Hayes and Johnson, {Andrew D} and Yanek, {Lisa R} and Christian Mueller and Leslie Lange and Floyd, {James S} and Mohsen Ghanbari and Zonderman, {Alan B} and Jukema, {J Wouter} and Albert Hofman and {van Duijn}, {Cornelia M} and Desch, {Karl C} and Yasaman Saba and Ozel, {Ayse B} and Snively, {Beverly M} and Jer-Yuarn Wu and Reinhold Schmidt and Myriam Fornage and Klein, {Robert J} and Fox, {Caroline S} and Koichi Matsuda and Naoyuki Kamatani and Wild, {Philipp S} and Stott, {David J} and Ian Ford and Slagboom, {P Eline} and Jaden Yang and Chu, {Audrey Y} and Lambert, {Amy J} and Uitterlinden, {Andr{\'e} G} and Franco, {Oscar H} and Edith Hofer and David Ginsburg and Bella Hu and Brendan Keating and Schick, {Ursula M} and Brody, {Jennifer A} and Li, {Jun Z} and Zhao Chen and Tanja Zeller and Guralnik, {Jack M} and Chasman, {Daniel I} and Peters, {Luanne L} and Michiaki Kubo and Becker, {Diane M} and Jin Li and Gudny Eiriksdottir and Rotter, {Jerome I} and Daniel Levy and Vera Grossmann and Patel, {Kushang V} and Chien-Hsiun Chen and Ridker, {Paul M} and Hua Tang and Launer, {Lenore J} and Rice, {Kenneth M} and Ruifang Li-Gao and Luigi Ferrucci and Evans, {Michelle K} and Avik Choudhuri and Eirini Trompouki and Abraham, {Brian J} and Song Yang and Atsushi Takahashi and Yoichiro Kamatani and Charles Kooperberg and Harris, {Tamara B} and Jee, {Sun Ha} and Josef Coresh and Fuu-Jen Tsai and Longo, {Dan L} and Yuan-Tsong Chen and Felix, {Janine F} and Qiong Yang and Psaty, {Bruce M} and Eric Boerwinkle and Becker, {Lewis C} and Mook-Kanamori, {Dennis O} and Wilson, {James G} and Vilmundur Gudnason and O'Donnell, {Christopher J} and Abbas Dehghan and Cupples, {L Adrienne} and Nalls, {Michael A} and Morris, {Andrew P} and Yukinori Okada and Reiner, {Alexander P} and Zon, {Leonard I} and Ganesh, {Santhi K} and {BioBank Japan Project}",
note = "Copyright {\textcopyright} 2017 American Society of Human Genetics. All rights reserved.",
year = "2017",
month = jan,
day = "5",
doi = "10.1016/j.ajhg.2016.11.016",
language = "English",
volume = "100",
pages = "51--63",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "1",

}

RIS

TY - JOUR

T1 - Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis

AU - van Rooij, Frank J A

AU - Qayyum, Rehan

AU - Smith, Albert V

AU - Zhou, Yi

AU - Trompet, Stella

AU - Tanaka, Toshiko

AU - Keller, Margaux F

AU - Chang, Li-Ching

AU - Schmidt, Helena

AU - Yang, Min-Lee

AU - Chen, Ming-Huei

AU - Hayes, James

AU - Johnson, Andrew D

AU - Yanek, Lisa R

AU - Mueller, Christian

AU - Lange, Leslie

AU - Floyd, James S

AU - Ghanbari, Mohsen

AU - Zonderman, Alan B

AU - Jukema, J Wouter

AU - Hofman, Albert

AU - van Duijn, Cornelia M

AU - Desch, Karl C

AU - Saba, Yasaman

AU - Ozel, Ayse B

AU - Snively, Beverly M

AU - Wu, Jer-Yuarn

AU - Schmidt, Reinhold

AU - Fornage, Myriam

AU - Klein, Robert J

AU - Fox, Caroline S

AU - Matsuda, Koichi

AU - Kamatani, Naoyuki

AU - Wild, Philipp S

AU - Stott, David J

AU - Ford, Ian

AU - Slagboom, P Eline

AU - Yang, Jaden

AU - Chu, Audrey Y

AU - Lambert, Amy J

AU - Uitterlinden, André G

AU - Franco, Oscar H

AU - Hofer, Edith

AU - Ginsburg, David

AU - Hu, Bella

AU - Keating, Brendan

AU - Schick, Ursula M

AU - Brody, Jennifer A

AU - Li, Jun Z

AU - Chen, Zhao

AU - Zeller, Tanja

AU - Guralnik, Jack M

AU - Chasman, Daniel I

AU - Peters, Luanne L

AU - Kubo, Michiaki

AU - Becker, Diane M

AU - Li, Jin

AU - Eiriksdottir, Gudny

AU - Rotter, Jerome I

AU - Levy, Daniel

AU - Grossmann, Vera

AU - Patel, Kushang V

AU - Chen, Chien-Hsiun

AU - Ridker, Paul M

AU - Tang, Hua

AU - Launer, Lenore J

AU - Rice, Kenneth M

AU - Li-Gao, Ruifang

AU - Ferrucci, Luigi

AU - Evans, Michelle K

AU - Choudhuri, Avik

AU - Trompouki, Eirini

AU - Abraham, Brian J

AU - Yang, Song

AU - Takahashi, Atsushi

AU - Kamatani, Yoichiro

AU - Kooperberg, Charles

AU - Harris, Tamara B

AU - Jee, Sun Ha

AU - Coresh, Josef

AU - Tsai, Fuu-Jen

AU - Longo, Dan L

AU - Chen, Yuan-Tsong

AU - Felix, Janine F

AU - Yang, Qiong

AU - Psaty, Bruce M

AU - Boerwinkle, Eric

AU - Becker, Lewis C

AU - Mook-Kanamori, Dennis O

AU - Wilson, James G

AU - Gudnason, Vilmundur

AU - O'Donnell, Christopher J

AU - Dehghan, Abbas

AU - Cupples, L Adrienne

AU - Nalls, Michael A

AU - Morris, Andrew P

AU - Okada, Yukinori

AU - Reiner, Alexander P

AU - Zon, Leonard I

AU - Ganesh, Santhi K

AU - BioBank Japan Project

N1 - Copyright © 2017 American Society of Human Genetics. All rights reserved.

PY - 2017/1/5

Y1 - 2017/1/5

N2 - 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.

AB - 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.

KW - Africa/ethnology

KW - Alleles

KW - Animals

KW - Bayes Theorem

KW - Continental Population Groups/genetics

KW - Erythrocytes/metabolism

KW - Erythropoiesis/genetics

KW - Ethnic Groups/genetics

KW - Europe/ethnology

KW - Far East/ethnology

KW - Female

KW - Genome-Wide Association Study

KW - Humans

KW - Linkage Disequilibrium

KW - Male

KW - RNA-Binding Proteins/genetics

KW - Zebrafish/genetics

U2 - 10.1016/j.ajhg.2016.11.016

DO - 10.1016/j.ajhg.2016.11.016

M3 - SCORING: Journal article

C2 - 28017375

VL - 100

SP - 51

EP - 63

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 1

ER -