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Genetic architecture of blood cell formation

Identification of DNA sequence variants and genes that influence different aspects of human hematopoiesis.

In this project we explore an innovative, population-genetic approach to find regulators of blood cell formation. Exploiting a rare combination of samples and technical platforms, we are carrying out a large-scale association study with high phenotyping resolution and including both differentiated cells and stem- and progenitor cells. The project will provide a first high-resolution analysis of how genetic variation influences blood cell formation, including at the stem- and progenitor levels, potentially exposing novel regulatory mechanisms that could be utilized to modulate blood cell formation for clinical benefit.

Initially, we have carried out studies on immunoglobulin levels (Jonsson et al., Nature Genetics 2017). Here we discovered 32 loci influencing IgA, IgG and IgM levels, including multiple loci harboring previously unknown regulators of Ig synthesis. Another important finding is the identification of SMIM1 as the gene underlying the Vel blood group system (Storry et al; Nature Genetics 2013). Beneficially, the lab has developed several methods for interpreting complex genomics data and applied these to problems in hematology.


Blood samples and array silouettes