Immunogenetics

, Volume 58, Issue 2, pp 89–98

Associations of the IL2Rα, IL4Rα, IL10Rα, and IFNγR1 cytokine receptor genes with AIDS progression in a French AIDS cohort

  • Hervé Do
  • Alexandre Vasilescu
  • Gora Diop
  • Thomas Hirtzig
  • Cédric Coulonges
  • Taoufik Labib
  • Simon C. Heath
  • Jean-Louis Spadoni
  • Amu Therwath
  • Mark Lathrop
  • Fumihiko Matsuda
  • Jean-François Zagury
Original Paper

DOI: 10.1007/s00251-005-0072-3

Cite this article as:
Do, H., Vasilescu, A., Diop, G. et al. Immunogenetics (2006) 58: 89. doi:10.1007/s00251-005-0072-3

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.

Keywords

Cytokine receptors AIDS progression Genotyping Genetic polymorphism Haplotype GRIV cohort 

Supplementary material

251_2005_72_MOESM1_ESM.pdf (110 kb)
Table S1(PDF 113 kb)
251_2005_72_MOESM2_ESM.pdf (163 kb)
Table S2(PDF 167 kb)
251_2005_72_MOESM3_ESM.pdf (164 kb)
Table S3(PDF 167 kb)

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Hervé Do
    • 1
    • 2
  • Alexandre Vasilescu
    • 1
    • 2
  • Gora Diop
    • 1
    • 2
  • Thomas Hirtzig
    • 1
    • 2
  • Cédric Coulonges
    • 1
  • Taoufik Labib
    • 1
  • Simon C. Heath
    • 2
  • Jean-Louis Spadoni
    • 3
  • Amu Therwath
    • 1
  • Mark Lathrop
    • 2
  • Fumihiko Matsuda
    • 2
  • Jean-François Zagury
    • 1
    • 3
  1. 1.Équipe génomique, bioinformatique et pathologies du système immunitaireINSERM U736ParisFrance
  2. 2.Centre National de GénotypageEvryFrance
  3. 3.Chaire de BioinformatiqueConservatoire National des Arts et MétiersParisFrance