Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

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

Research output: Contribution to journalArticlepeer-review

270 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)1191-1198
Number of pages8
JournalNature Genetics
Issue number11
Publication statusPublished - Nov 2009


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