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

Genes & Immunity volume 8, pages 79–83 (2007)Cite this article

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 β chain (IL-2Rβ). Present at a frequency of 7.2%, the IL-2-Rβ 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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Acknowledgements

This work was supported by a Grant IC 18 CT 98 0373 (European Commission) by the French Research Ministry Programme PRFMMIP/Microbiology and by INSERM.

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Authors and Affiliations

  1. INSERM U399 ‘Immunologie et Génétique des Maladies Parasitaires’, Faculté de Médecine La Timone, Marseille, France

    B Bucheton, L Argiro, C Chevillard, S Marquet & A J Dessein

  2. UMR CNRS/IRD 2724 ‘Génétique et Evolution des Maladies Infectieuses (GEMI)’, Montpellier, France

    B Bucheton

  3. Laboratorie de Parasitologie Mycologie, Faculté de Médicine La Timone, Université de la Méditerranée, Marseille, France

    L Argiro, C Chevillard, S Marquet & A J Dessein

  4. Department of Microbiology and Parasitology, Faculty of Medicine, University of Khartoum, Khartoum, Sudan

    M M Kheir & S H El-Safi

  5. Institute of Nuclear Medicine Molecular Biology and Oncology, University of Gezira, Wad Medani, Sudan

    A Mergani

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  1. B Bucheton
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  2. L Argiro
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  7. S H El-Safi
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Correspondence to B Bucheton.

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Bucheton, B., Argiro, L., Chevillard, C. et al. Identification of a novel G245R polymorphism in the IL-2 receptor β membrane proximal domain associated with human visceral leishmaniasis. Genes Immun 8, 79–83 (2007). https://doi.org/10.1038/sj.gene.6364355

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