Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Dr. med. Kaimo Hirv

Scientific Background

Individual fluctuations in the production of cytokines may influence the susceptibility for various infectious or autoimmune diseases or have a negative impact on the success of organ, bone marrow or stem cell transplantation (e.g. rejection, graft-versus-host disease, GVHD). Several genetic variants discussed in the literature which usually affect the regulatory elements (e.g. promoter region) of cytokine genes influence the gene expression and therefore the cytokine concentration in the blood or the site of action. This has an impact on the course of severe infectious diseases or GVHD. The tumor necrosis factor β (TNF-β) is a key component of an adequate immune response during bacterial infections. An NcoI polymorphism in the TNF-β gene (TNF-β-B2 allele) has been associated with an unfavourable prognosis of sepsis and an elevated risk for infections in recipients of liver and kidney transplants. Other polymorphisms which may be clinically relevant regarding the course of sepsis or GVHD were also described for the regulatory elements of α-interferon, IL-6, Il-10, TGF-β and TNF-α.