In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population

Xiangsheng Huang, Vera Kühne, Jürgen F J Kun, Peter T. Soboslay, Bertrand Lell, T. P. Velavan

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: The selection pressure imposed by the parasite has a functional consequence on the immune genes, leading to altered immune function in which regulatory T cells (Tregs) induced by parasites during infectious challenges modulate or thwart T effector cell mechanism.Methods: We identified and investigated regulatory polymorphisms in the immune gene IL2 and its receptor IL2R alpha (also known as CD25) in Gabonese individuals exposed to plentiful parasitic infections.Results: We identified two reported variants each for IL2 and its receptor IL2R alpha gene loci. Also identified were two novel variants, -83 /-84 CT deletions (ss410961576) for IL2 and -409C/T (ss410961577) for IL2R alpha. We further validated all identified promoter variants for their allelic gene expression using transient transfection assays. Three promoter variants of the IL2 locus revealed no significant expression of the reporter gene. The identified novel variant (ss410961577C/T) of the IL2R alpha revealed a significant higher expression of the reporter gene in comparison to the major allele (P

Original languageEnglish (US)
Article number117
JournalBMC Medical Genetics
Volume13
DOIs
StatePublished - Dec 7 2012
Externally publishedYes

Fingerprint

Genetic Promoter Regions
Interleukin-2
Single Nucleotide Polymorphism
Interleukin-2 Receptors
Reporter Genes
Parasites
Population
Genes
Parasitic Diseases
Regulatory T-Lymphocytes
Transfection
Alleles
Gene Expression
Pressure
In Vitro Techniques

Keywords

  • CD25
  • IL2
  • IL2R alpha
  • Polymorphism
  • Regulatory T cells
  • Transfection

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population. / Huang, Xiangsheng; Kühne, Vera; Kun, Jürgen F J; Soboslay, Peter T.; Lell, Bertrand; Velavan, T. P.

In: BMC Medical Genetics, Vol. 13, 117, 07.12.2012.

Research output: Contribution to journalArticle

Huang, Xiangsheng ; Kühne, Vera ; Kun, Jürgen F J ; Soboslay, Peter T. ; Lell, Bertrand ; Velavan, T. P. / In-vitro characterization of novel and functional regulatory SNPs in the promoter region of IL2 and IL2R alpha in a Gabonese population. In: BMC Medical Genetics. 2012 ; Vol. 13.
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AU - Lell, Bertrand

AU - Velavan, T. P.

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