Novel regulatory SNPs in the promoter region of the TNFRSF18 gene in a gabonese population

T. P. Velavan, S. Bechlars, Xiangsheng Huang, P. G. Kremsner, J. F J Kun

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Parasites are accountable for driving diversity within immune gene families. We identified and investigated regulatory single nucleotide polymorphisms (SNPs) in the promoter regions of the tumor necrosis factor receptor super family member 18 (TNFRSF18) gene by direct sequencing in a group of male Gabonese individuals exposed to a wide array of parasitic diseases such as malaria, filariasis and schistosomiasis. Two new promoter variants were identified in 40 individuals. Both novel variants were heterozygous and were linked to SNP #rs3753344 (C/T), which has been described. One of the SNP variants (ss2080581728) was close to the general transcription factor site, the TATA box. We further validated these new promoter variants for their allelic gene expression using transient transfection assays. One new promoter variant with two base changes (C/T - ss2080581728/ rs3753344) displayed an altered expression of the marker gene. Both novel variants remained less active at the non-induced state in comparison to the major allele. The allele frequencies observed in this study were consistent with data for other African populations. The detection and analysis of these human immune gene polymorphisms contribute to a better understanding of the interaction between host-parasite and expression of Treg activity.

Original languageEnglish (US)
Pages (from-to)418-420
Number of pages3
JournalBrazilian Journal of Medical and Biological Research
Volume44
Issue number5
DOIs
StatePublished - May 2011
Externally publishedYes

Fingerprint

Tumor Necrosis Factor Receptors
Polymorphism
Genetic Promoter Regions
Single Nucleotide Polymorphism
Nucleotides
Genes
General Transcription Factors
Population
Gene Expression
Host-Parasite Interactions
Filariasis
TATA Box
Parasitic Diseases
Schistosomiasis
Gene Frequency
Malaria
Transfection
Parasites
Alleles
Gene expression

Keywords

  • Polymorphism
  • Regulatory T cells
  • Transfection
  • Tumor necrosis factor receptor super family

ASJC Scopus subject areas

  • Neuroscience(all)
  • Medicine(all)
  • Immunology
  • Pharmacology, Toxicology and Pharmaceutics(all)
  • Physiology
  • Biochemistry
  • Biophysics
  • Cell Biology

Cite this

Novel regulatory SNPs in the promoter region of the TNFRSF18 gene in a gabonese population. / Velavan, T. P.; Bechlars, S.; Huang, Xiangsheng; Kremsner, P. G.; Kun, J. F J.

In: Brazilian Journal of Medical and Biological Research, Vol. 44, No. 5, 05.2011, p. 418-420.

Research output: Contribution to journalArticle

Velavan, T. P. ; Bechlars, S. ; Huang, Xiangsheng ; Kremsner, P. G. ; Kun, J. F J. / Novel regulatory SNPs in the promoter region of the TNFRSF18 gene in a gabonese population. In: Brazilian Journal of Medical and Biological Research. 2011 ; Vol. 44, No. 5. pp. 418-420.
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