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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 publication

DOI

10.1038/ng.466

Type

Journal article

Journal

Nature genetics

Publication Date

11/2009

Volume

41

Pages

1191 - 1198

Addresses

National Human Genome Research Institute, Division of Intramural Research, Bethesda, MD, USA. ganeshs@mail.nih.gov

Keywords

Erythrocytes, Cell Line, Endothelial Cells, Humans, Hypertension, Cohort Studies, Gene Expression, Blood Pressure, Phenotype, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome, Human, Genome-Wide Association Study