Scientific article

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium

ContributorsGanesh, Santhi K.; CHARGE Consortium
Published inNature genetics, vol. 41, no. 11, p. 1191-1198
Publication date2009

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.

  • Blood Pressure/*genetics
  • Cell Line
  • Cohort Studies
  • Endothelial Cells/metabolism
  • *Erythrocytes/metabolism
  • Gene Expression
  • Genome, Human
  • *Genome-Wide Association Study
  • Humans
  • Hypertension/*genetics
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci
  • Phenotype
Citation (ISO format)
GANESH, Santhi K. Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. In: Nature genetics, 2009, vol. 41, n° 11, p. 1191–1198. doi: 10.1038/ng.466
Main files (1)
ISSN of the journal1061-4036

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