Immunogenetics

, Volume 63, Issue 7, pp 409–415

Novel and functional regulatory SNPs in the promoter region of FOXP3 gene in a Gabonese population

  • Susanne A. Hanel
  • Velavan TP
  • Peter G. Kremsner
  • Jürgen F. J. Kun
Original Paper

DOI: 10.1007/s00251-011-0524-x

Cite this article as:
Hanel, S.A., TP, V., Kremsner, P.G. et al. Immunogenetics (2011) 63: 409. doi:10.1007/s00251-011-0524-x

Abstract

Parasites exert a selection pressure on their hosts and are accountable for driving diversity within gene families and immune gene polymorphisms in a host population. The overwhelming response of regulatory T cells during infectious challenges directs the host immune system to lose the ability to mount parasite specific T cell responses. The underlying idea of this study is that regulatory single nucleotide polymorphism (SNPs) can cause significant changes in gene expression in functional immune genes. We identified and investigated regulatory SNPs in the promoter region of the FOXP3 gene in a group of Gabonese individuals exposed to a variety of parasitic infections. We identified two novel and one promoter variants in 40 individual subjects. We further validated these promoter variants for their allelic gene expression using transient transfection assays. Two promoter variants, −794 (C/G) and the other variant −734/−540 (C/T) revealed a significant higher expression of the reporter gene at basal level in comparison to the major allele. The identification of SNPs that modify function in the promoter regions could provide a basis for studying parasite susceptibility in association studies.

Keywords

FOXP3PolymorphismTransfectionTregs

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Susanne A. Hanel
    • 1
  • Velavan TP
    • 1
  • Peter G. Kremsner
    • 1
    • 2
  • Jürgen F. J. Kun
    • 1
  1. 1.Institute for Tropical MedicineUniversity of TübingenTübingenGermany
  2. 2.Medical Research UnitAlbert Schweitzer HospitalLambarénéGabon