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Genes determining blood cell traits

Nature Genetics volume 41, pages 1161–1162 (2009)Cite this article

Four genome-wide association studies report associations to a range of clinically relevant hematological traits. The candidate genes identified include many that are known to be important in iron homeostasis and red blood cell maturation.

The complete blood count, or CBC, is a commonly used screen for indicators of health and disease. It includes measurements of red blood cells (erythrocytes), white blood cells (lymphocytes, granulocytes and monocytes) and platelets, which are important for oxygen carrying, host defense and blood clotting, respectively. The numbers and characteristics of each type of blood cell are determined by poorly understood homeostatic mechanisms, by responses to external stresses (for example, hypoxia, infection or bleeding) and by individual set-points that may be genetically determined. Previous genome-wide association studies (GWAS) have begun to identify genomic loci associated with variation in platelet size1 and eosinophil number using relatively small cohorts2. In this issue of Nature Genetics, four independent studies report GWAS to a range of clinically relevant hematological traits3,4,5,6.

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Figure 1: Red cell parameters indicative of conditions that alter erythropoiesis.

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  1. Nancy C. Andrews is at the departments of Pediatrics and Pharmacology & Cancer Biology, Duke University, Durham, North Carolina, USA.,

    Nancy C Andrews

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  1. Nancy C Andrews
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Correspondence to Nancy C Andrews.

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Andrews, N. Genes determining blood cell traits. Nat Genet 41, 1161–1162 (2009). https://doi.org/10.1038/ng1109-1161

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