title: Novel regulatory SNPs in the promoter region of the TNFRSF18 gene in a Gabonese population.
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 superfamily 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.
authors: Institute for Tropical Medicine, University of Tübingen, Germany. velavan@medizin.uni-tuebingen.de
authors: T P
authors: TP
authors: Velavan
authors: S
authors: S
authors: Bechlars
authors: X
authors: X
authors: Huang
authors: P G
authors: PG
authors: Kremsner
authors: J F J
authors: JF
authors: Kun
mesh_terms: D005681:Gabon; D005787:Gene Frequency; D053450:Glucocorticoid-Induced TNFR-Related Protein / Q000235:genetics*; D006790:Host-Parasite Interactions / Q000235:genetics* / Q000276:immunology; D006801:Humans; D008297:Male; D010272:Parasitic Diseases / Q000235:genetics* / Q000276:immunology; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D014162:Transfection
chemical_list: D053450:Glucocorticoid-Induced TNFR-Related Protein