Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

SK Ganesh; NA Zakai; FJA van Rooij; N Soranzo; AV Smith; MA Nalls; MH Chen; A Kottgen; NL Glazer; Abbas Dehghan; B Kuhnel; T Aspelund; Q Yang; T Tanaka; A Jaffe; JCM Bis; Germaine Verwoert; A Teumer; CS Fox; JM Guralnik; GB Ehret; K Rice; Janine Felix; A Rendon; G Eiriksdottir; D Levy; KV Patel; E Boerwinkle; JI Rotter; Bert Hofman; JG Sambrook; DG Hernandez; G Zheng; S Bandinelli; AB Singleton; J Coresh; T Lumley; André Uitterlinden; JM vanGils; LJ (Lenore) Launer; LA Cupples; Ben Oostra; JJ Zwaginga; WH Ouwehand; SL Thein; C Meisinger; P Deloukas; M Nauck; TD Spector; C Gieger; V Gudnason; Cornelia Duijn; BM Psaty; L Ferrucci; A Chakravarti; A Greinacher; CJ O'Donnell; JCM Witteman; S Furth; M Cushman; TB Harris; JP Lin

doi:10.1038/ng.466

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

SK Ganesh, NA Zakai, FJA van Rooij, N Soranzo, AV Smith, MA Nalls, MH Chen, A Kottgen, NL Glazer, Abbas Dehghan, B Kuhnel, T Aspelund, Q Yang, T Tanaka, A Jaffe, JCM Bis, Germaine Verwoert, A Teumer, CS Fox, JM GuralnikGB Ehret, K Rice, Janine Felix, A Rendon, G Eiriksdottir, D Levy, KV Patel, E Boerwinkle, JI Rotter, Bert Hofman, JG Sambrook, DG Hernandez, G Zheng, S Bandinelli, AB Singleton, J Coresh, T Lumley, André Uitterlinden, JM vanGils, LJ (Lenore) Launer, LA Cupples, Ben Oostra, JJ Zwaginga, WH Ouwehand, SL Thein, C Meisinger, P Deloukas, M Nauck, TD Spector, C Gieger, V Gudnason, Cornelia Duijn, BM Psaty, L Ferrucci, A Chakravarti, A Greinacher, CJ O'Donnell, JCM Witteman, S Furth, M Cushman, TB Harris, JP Lin

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Abstract

Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 x 10(-8) to 7 x 10(-86)). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.

Original language	Undefined/Unknown
Pages (from-to)	1191-U48
Journal	Nature Genetics
Volume	41
Issue number	11
DOIs	https://doi.org/10.1038/ng.466
Publication status	Published - 2009

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EMC MGC-02-96-01
EMC MM-01-39-02
EMC NIHES-01-64-01

Access to Document

10.1038/ng.466

http://hdl.handle.net/1765/24584

Cite this

Ganesh, SK., Zakai, NA., van Rooij, FJA., Soranzo, N., Smith, AV., Nalls, MA., Chen, MH., Kottgen, A., Glazer, NL., Dehghan, A., Kuhnel, B., Aspelund, T., Yang, Q., Tanaka, T., Jaffe, A., Bis, JCM., Verwoert, G., Teumer, A., Fox, CS., ... Lin, JP. (2009). Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nature Genetics, 41(11), 1191-U48. https://doi.org/10.1038/ng.466

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title = "Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium",

abstract = "Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 x 10(-8) to 7 x 10(-86)). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.",

author = "SK Ganesh and NA Zakai and \{van Rooij\}, FJA and N Soranzo and AV Smith and MA Nalls and MH Chen and A Kottgen and NL Glazer and Abbas Dehghan and B Kuhnel and T Aspelund and Q Yang and T Tanaka and A Jaffe and JCM Bis and Germaine Verwoert and A Teumer and CS Fox and JM Guralnik and GB Ehret and K Rice and Janine Felix and A Rendon and G Eiriksdottir and D Levy and KV Patel and E Boerwinkle and JI Rotter and Bert Hofman and JG Sambrook and DG Hernandez and G Zheng and S Bandinelli and AB Singleton and J Coresh and T Lumley and Andr{\'e} Uitterlinden and JM vanGils and Launer, \{LJ (Lenore)\} and LA Cupples and Ben Oostra and JJ Zwaginga and WH Ouwehand and SL Thein and C Meisinger and P Deloukas and M Nauck and TD Spector and C Gieger and V Gudnason and Cornelia Duijn and BM Psaty and L Ferrucci and A Chakravarti and A Greinacher and CJ O'Donnell and JCM Witteman and S Furth and M Cushman and TB Harris and JP Lin",

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Ganesh, SK, Zakai, NA, van Rooij, FJA, Soranzo, N, Smith, AV, Nalls, MA, Chen, MH, Kottgen, A, Glazer, NL, Dehghan, A, Kuhnel, B, Aspelund, T, Yang, Q, Tanaka, T, Jaffe, A, Bis, JCM, Verwoert, G, Teumer, A, Fox, CS, Guralnik, JM, Ehret, GB, Rice, K, Felix, J, Rendon, A, Eiriksdottir, G, Levy, D, Patel, KV, Boerwinkle, E, Rotter, JI, Hofman, B, Sambrook, JG, Hernandez, DG, Zheng, G, Bandinelli, S, Singleton, AB, Coresh, J, Lumley, T, Uitterlinden, A, vanGils, JM, Launer, LJ, Cupples, LA, Oostra, B, Zwaginga, JJ, Ouwehand, WH, Thein, SL, Meisinger, C, Deloukas, P, Nauck, M, Spector, TD, Gieger, C, Gudnason, V, Duijn, C, Psaty, BM, Ferrucci, L, Chakravarti, A, Greinacher, A, O'Donnell, CJ, Witteman, JCM, Furth, S, Cushman, M, Harris, TB & Lin, JP 2009, 'Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium', Nature Genetics, vol. 41, no. 11, pp. 1191-U48. https://doi.org/10.1038/ng.466

TY - JOUR

T1 - Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

AU - Ganesh, SK

AU - Zakai, NA

AU - van Rooij, FJA

AU - Soranzo, N

AU - Smith, AV

AU - Nalls, MA

AU - Chen, MH

AU - Kottgen, A

AU - Glazer, NL

AU - Dehghan, Abbas

AU - Kuhnel, B

AU - Aspelund, T

AU - Yang, Q

AU - Tanaka, T

AU - Jaffe, A

AU - Bis, JCM

AU - Verwoert, Germaine

AU - Teumer, A

AU - Fox, CS

AU - Guralnik, JM

AU - Ehret, GB

AU - Rice, K

AU - Felix, Janine

AU - Rendon, A

AU - Eiriksdottir, G

AU - Levy, D

AU - Patel, KV

AU - Boerwinkle, E

AU - Rotter, JI

AU - Hofman, Bert

AU - Sambrook, JG

AU - Hernandez, DG

AU - Zheng, G

AU - Bandinelli, S

AU - Singleton, AB

AU - Coresh, J

AU - Lumley, T

AU - Uitterlinden, André

AU - vanGils, JM

AU - Launer, LJ (Lenore)

AU - Cupples, LA

AU - Oostra, Ben

AU - Zwaginga, JJ

AU - Ouwehand, WH

AU - Thein, SL

AU - Meisinger, C

AU - Deloukas, P

AU - Nauck, M

AU - Spector, TD

AU - Gieger, C

AU - Gudnason, V

AU - Duijn, Cornelia

AU - Psaty, BM

AU - Ferrucci, L

AU - Chakravarti, A

AU - Greinacher, A

AU - O'Donnell, CJ

AU - Witteman, JCM

AU - Furth, S

AU - Cushman, M

AU - Harris, TB

AU - Lin, JP

PY - 2009

Y1 - 2009

N2 - Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 x 10(-8) to 7 x 10(-86)). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.

AB - Measurements of erythrocytes within the blood are important clinical traits and can indicate various hematological disorders. We report here genome-wide association studies (GWAS) for six erythrocyte traits, including hemoglobin concentration (Hb), hematocrit (Hct), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC) and red blood cell count (RBC). We performed an initial GWAS in cohorts of the CHARGE Consortium totaling 24,167 individuals of European ancestry and replication in additional independent cohorts of the HaemGen Consortium totaling 9,456 individuals. We identified 23 loci significantly associated with these traits in a meta-analysis of the discovery and replication cohorts (combined P values ranging from 5 x 10(-8) to 7 x 10(-86)). Our findings include loci previously associated with these traits (HBS1L-MYB, HFE, TMPRSS6, TFR2, SPTA1) as well as new associations (EPO, TFRC, SH2B3 and 15 other loci). This study has identified new determinants of erythrocyte traits, offering insight into common variants underlying variation in erythrocyte measures.

U2 - 10.1038/ng.466

DO - 10.1038/ng.466

M3 - Article

C2 - 19862010

SN - 1061-4036

VL - 41

SP - 1191-U48

JO - Nature Genetics

JF - Nature Genetics

IS - 11

ER -