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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

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Ganesh, Santhi K, Zakai, Neil A, van Rooij, Frank J A, Soranzo, Nicole, Smith, Albert V, Nalls, Michael A, Chen, Ming-Huei, Kottgen, Anna, Glazer, Nicole L, Dehghan, Abbas, Kuhnel, Brigitte, Aspelund, Thor, Yang, Qiong, Tanaka, Toshiko, Jaffe, Andrew, Bis, Joshua C M, Verwoert, Germaine C, Teumer, Alexander, Fox, Caroline S, Guralnik, Jack M, Ehret, Georg B, Rice, Kenneth, Felix, Janine F, Rendon, Augusto, Eiriksdottir, Gudny, Levy, Daniel, Patel, Kushang V, Boerwinkle, Eric, Rotter, Jerome I, Hofman, Albert, Sambrook, Jennifer G, Hernandez, Dena G, Zheng, Gang, Bandinelli, Stefania, Singleton, Andrew B, Coresh, Josef, Lumley, Thomas, Uitterlinden, André G, vanGils, Janine M, Launer, Lenore J, Cupples, L Adrienne, Oostra, Ben A, Zwaginga, Jaap-Jan, Ouwehand, Willem H, Thein, Swee-Lay, Meisinger, Christa, Deloukas, Panos, Nauck, Matthias, Spector, Tim D, Gieger, Christian, Gudnason, Vilmundur, van Duijn, Cornelia M, Psaty, Bruce M, Ferrucci, Luigi, Chakravarti, Aravinda, Greinacher, Andreas, O'Donnell, Christopher J, Witteman, Jacqueline C M, Furth, Susan, Cushman, Mary, Harris, Tamara B, Lin, Jing-Ping·2009·Nature Genetics
DOI 10.1038/ng.466
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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 × 10−8 to 7 × 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.

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Metadata

Authors
Ganesh, S. K., Zakai, N. A., van Rooij, F. J. A., Soranzo, N., Smith, A. V., Nalls, M. A., Chen, M.-H., Kottgen, A., Glazer, N. L., Dehghan, A., Kuhnel, B., Aspelund, T., Yang, Q., Tanaka, T., Jaffe, A., Bis, J. C. M., Verwoert, G. C., Teumer, A., Fox, C. S., Guralnik, J. M., Ehret, G. B., Rice, K., Felix, J. F., Rendon, A., Eiriksdottir, G., Levy, D., Patel, K. V., Boerwinkle, E., Rotter, J. I., Hofman, A., Sambrook, J. G., Hernandez, D. G., Zheng, G., Bandinelli, S., Singleton, A. B., Coresh, J., Lumley, T., Uitterlinden, A. G., vanGils, J. M., Launer, L. J., Cupples, L. A., Oostra, B. A., Zwaginga, J.-J., Ouwehand, W. H., Thein, S.-L., Meisinger, C., Deloukas, P., Nauck, M., Spector, T. D., Gieger, C., Gudnason, V., van Duijn, C. M., Psaty, B. M., Ferrucci, L., Chakravarti, A., Greinacher, A., O'Donnell, C. J., Witteman, J. C. M., Furth, S., Cushman, M., Harris, T. B., & Lin, J.-P.
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2009-10-11
Volume
41
Issue
11
Pages
1191-1198
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/ng.466
OpenAlex
W1971476169
Cited by
358
References
11
FWCI
19.96
Type
journal article
Language
en
Open access
green
Licence
www.springer.com/tdm (tdm)

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CoChat. (2026). Citation check: Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. https://app.cochat.ai/papers/10.1038/ng.466
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Ganesh, S. K., Zakai, N. A., van Rooij, F. J. A., Soranzo, N., Smith, A. V., Nalls, M. A., Chen, M.-H., Kottgen, A., Glazer, N. L., Dehghan, A., Kuhnel, B., Aspelund, T., Yang, Q., Tanaka, T., Jaffe, A., Bis, J. C. M., Verwoert, G. C., Teumer, A., Fox, C. S., . . . Lin, J.-P. (2009). Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nature Genetics. https://doi.org/10.1038/ng.466

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