ArticleGenes and immunity2019
An IL7RA exon 5 polymorphism is associated with impaired IL-7Rα splicing and protection against tuberculosis in Ghana.
Article in Genes and immunity, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- From Gene to Protein-How Bacterial Virulence Factors Manipulate Host Gene Expression During Infection.International journal of molecular sciences · 2020Review
- IL7RA genetic variants differentially affect IL-7Rα expression and alternative splicing: a role in autoimmune and infectious diseases?Genes and immunity · 2020Review
- Deleterious and Oncogenic Mutations in theCancers · 2019Review
- RNA Splicing: A New Paradigm in Host-Pathogen Interactions.Journal of molecular biology · 2019Review
- Association between genetic variants in CD1A and CD1D genes and pulmonary tuberculosis in an Iranian population.Biomedical reports · 2019Article
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Authors and funding
10 authors at 2 institutions in 2 countries.
Funding
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.
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