Abstract
We have performed an extensive analysis of Th1/Th2 cytokine receptors IL2Rα, IL4Rα, IL10Rα, and IFNγR1 gene polymorphisms to evaluate their impact on AIDS progression. The coding regions and promoters of these genes were sequenced in the genetics of resistance to immunodeficiency virus cohort, composed of 327 HIV-1-positive patients with extreme progression phenotypes, slow and rapid progressors, and of 446 healthy control subjects, all of them of Caucasian descent. Overall, 104 single nucleotide polymorphisms and four insertions/deletions with a minor allelic frequency higher than 1% were identified, 21 of them being newly characterized. We observed weak associations for 13 polymorphisms of IL2Rα, IL4Rα, IL10Rα, and IFNγR1, and 11 haplotypes of IL2Rα, IL4Rα, and IFNγR1. However, we could not relate these positive signals to any relevant biological information on the gene function. To affirm these putative associations in AIDS, further confirmation on other AIDS cohorts will be needed. This complete catalog of polymorphisms in IL2Rα, IL4Rα, IL10Rα, and IFNγR1 cytokine receptor genes should also be useful for investigating associations in other immune-related diseases.
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Acknowledgements
The authors are grateful to all the patients and the medical staff who have kindly collaborated in this project. This work was supported by ACV Development Foundation and Neovacs SA. The Centre National de Génotypage (CNG) is supported by the Ministere de la Recherche et des Nouvelles Technologies.
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Do, H., Vasilescu, A., Diop, G. et al. Associations of the IL2Rα, IL4Rα, IL10Rα, and IFN γ R1 cytokine receptor genes with AIDS progression in a French AIDS cohort. Immunogenetics 58, 89–98 (2006). https://doi.org/10.1007/s00251-005-0072-3
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DOI: https://doi.org/10.1007/s00251-005-0072-3