Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis /Bucheton, Bruno Argiro, L. Chevillard, C. Marquet, S. Kheir, M.M. Mergani, A. El-Safi, S.H. Dessein, A.J. Binding of the interleukin-2 (IL-2) to the IL-2 receptor (IL-2R) triggers a series of intracellular events culminating in lymphocyte proliferation and differentiation. We report here the identification of a novel G245R polymorphism in the membrane proximal domain of the IL-2 receptor ? chain (IL-2R?). Present at a frequency of 7.2%, the IL-2-R? G245R was identified in a population of Eastern Sudan exposed to a severe outbreak of visceral leishmaniasis (VL), a disease associated with a marked depression of T-cell antigen-specific responses. The location of the G245R polymorphism next to the box1/box2 proximal cytokine receptor homology segment and suggestive genetic association with the development of disease (P=0.043), suggest that it may affect Janus kinase (JAK) association and impair growth signal transduction. However, additional genetic association with a synonymous single nucleotide polymorphism (IL2RB+8777T) suggests that other variations of IL2RB or nearby genes participate in the highly significant linkage with VL at 22q12 previously reported for this population. 2007 text https://www.documentation.ird.fr/hor/fdi:010093141 fdi:010093141 Bucheton Bruno, Argiro L., Chevillard C., Marquet S., Kheir M.M., Mergani A., El-Safi S.H., Dessein A.J.. Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis. 2007, 8 (1), 79-83 EN