RGD Reference Report - Identification of a novel G245R polymorphism in the IL-2 receptor beta membrane proximal domain associated with human visceral leishmaniasis. - Rat Genome Database

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

Authors: Bucheton, B  Argiro, L  Chevillard, C  Marquet, S  Kheir, M M  Mergani, A  El-Safi, S H  Dessein, A J 
Citation: Bucheton B, etal., Genes Immun. 2007 Jan;8(1):79-83. doi: 10.1038/sj.gene.6364355. Epub 2006 Nov 16.
RGD ID: 42724466
Pubmed: PMID:17108990   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.gene.6364355   (Journal Full-text)

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.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
IL2RBHumanvisceral leishmaniasis susceptibilityIAGP DNA:polymorphisms:exon:8777 and 8838(human)RGD 
Il2rbRatvisceral leishmaniasis susceptibilityISOIL2RB (Homo sapiens)DNA:polymorphisms:exon:8777 and 8838(human)RGD 
Il2rbMousevisceral leishmaniasis susceptibilityISOIL2RB (Homo sapiens)DNA:polymorphisms:exon:8777 and 8838(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Il2rb  (interleukin 2 receptor subunit beta)

Genes (Mus musculus)
Il2rb  (interleukin 2 receptor, beta chain)

Genes (Homo sapiens)
IL2RB  (interleukin 2 receptor subunit beta)


Additional Information