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Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis

Abstract : 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 beta chain (IL-2Rbeta). Present at a frequency of 7.2%, the IL-2-Rbeta 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.
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https://hal-amu.archives-ouvertes.fr/hal-01592707
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Submitted on : Monday, September 25, 2017 - 12:12:01 PM
Last modification on : Thursday, December 20, 2018 - 12:26:05 PM

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B. Bucheton, L. Argiro, C. Chevillard, S. Marquet, M. M. Kheir, et al.. Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis. Genes and Immunity, Nature Publishing Group: Open Access Hybrid Model Option B, 2007, 8 (1), pp.79-83. ⟨10.1038/sj.gene.6364355⟩. ⟨hal-01592707⟩

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