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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Complete study acknowledgments are listed in the Supplementary Note. The authors thank the studies' participants and staff and the funding agencies for their support.
A. Chakravarti is a paid member of the Scientific Advisory Boards of Affymetrix and Pyxis Genomics. These potential conflicts of interest are managed by the policies of Johns Hopkins University School of Medicine.
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Ganesh, S., Zakai, N., van Rooij, F. et al. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nat Genet 41, 1191–1198 (2009). https://doi.org/10.1038/ng.466
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