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Please use this identifier to cite or link to this item: http://hdl.handle.net/123456789/11900

Title: An IL7RA exon 5 polymorphism is associated with impaired IL-7Rα splicing and protection against tuberculosis in Ghana
Authors: Phillips, Richard O.
Lundtoft, Christian
Awuah, Anthony Afum-Adjei
Güler, Alptekin
Harling, Kirstin
et. al
Issue Date: 31-Oct-2018
Publisher: Springer Nature Limited
Citation: Springer Nature Limited 20:514–519 https://doi.org/10.1038/s41435-018-0049-5
Abstract: Functional interleukin-7 receptor α-chain (IL-7Rα) genetic variants, which affect alternative splicing and expression of the soluble IL-7Rα, are associated with susceptibility to autoimmunity. We previously described aberrant IL-7Rα expression and impaired IL-7-mediated T-cell functions in tuberculosis patients. In the present study, we investigated a possible role of IL7RA gene variants. Six exonic IL7RA polymorphisms were genotyped and two minor alleles were found at lower frequencies in tuberculosis patients as compared to healthy contacts from Ghana (rs11567764, p = 0.002; rs1494558, p = 0.01). The rs11567764 polymorphism tags an IL7RA haplotype exclusively found in African populations and was predicted to affect splicing of exon 5. Reduced mRNA expression of the Δexon_5-6 variant was found in T-cells from carriers of the protective rs11567764 allele. Although we were not able to demonstrate the causative effect of rs11567764, our findings suggested functional implications of genetic variants on IL-7Rα splicing and with potential impact on T-cell protection against tuberculosis.
Description: An article published by Springer Nature Limited and available at doi.org/10.1038/s41435-018-0049-5
URI: http://hdl.handle.net/123456789/11900
Appears in Collections:College of Health Sciences

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