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 language | English (US) |
|---|---|
| Pages (from-to) | 418-420 |
| Number of pages | 3 |
| Journal | Brazilian Journal of Medical and Biological Research |
| Volume | 44 |
| Issue number | 5 |
| DOIs | |
| State | Published - May 2011 |
| Externally published | Yes |
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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 journal › Article
}
TY - JOUR
T1 - Novel regulatory SNPs in the promoter region of the TNFRSF18 gene in a gabonese population
AU - Velavan, T. P.
AU - Bechlars, S.
AU - Huang, Xiangsheng
AU - Kremsner, P. G.
AU - Kun, J. F J
PY - 2011/5
Y1 - 2011/5
N2 - 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.
AB - 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.
KW - Polymorphism
KW - Regulatory T cells
KW - Transfection
KW - Tumor necrosis factor receptor super family
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UR - http://www.scopus.com/inward/citedby.url?scp=79958063716&partnerID=8YFLogxK
U2 - 10.1590/S0100-879X2011007500036
DO - 10.1590/S0100-879X2011007500036
M3 - Article
C2 - 21445534
AN - SCOPUS:79958063716
VL - 44
SP - 418
EP - 420
JO - Brazilian Journal of Medical and Biological Research
JF - Brazilian Journal of Medical and Biological Research
SN - 0100-879X
IS - 5
ER -