Bucheton Bruno auteur aut IRD Argiro L. auteur aut IRD Chevillard C. auteur aut IRD Marquet S. auteur aut IRD Kheir M.M. auteur aut IRD Mergani A. auteur aut IRD El-Safi S.H. auteur aut IRD Dessein A.J. auteur aut IRD text journalArticle eng text/pdf born digital access 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. specialized 052 8 1 79-83 2007 1466-4879 https://www.documentation.ird.fr/hor/fdi:010093141 10.1038/sj.gene.6364355 1466-4879 [F B010093141] https://www.documentation.ird.fr/hor/fdi:010093141 https://www.documentation.ird.fr/intranet/publi/2025-02/010093141.pdf Accès réservé (Intranet de l'IRD) IRD - Base Horizon / Pleins textes 2010-05-06 2025-02-28 fdi:010093141 fre