Novel regulatory SNPs in the promoter region of the TNFRSF18 gene in a Gabonese population
Braz. j. med. biol. res
;
44(5): 418-420, May 2011. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-586507
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Doenças Parasitárias
/
Regiões Promotoras Genéticas
/
Polimorfismo de Nucleotídeo Único
/
Proteína Relacionada a TNFR Induzida por Glucocorticoide
/
Interações Hospedeiro-Parasita
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Masculino
País/Região como assunto:
África
Idioma:
Inglês
Revista:
Braz. j. med. biol. res
Assunto da revista:
Biologia
/
Medicina
Ano de publicação:
2011
Tipo de documento:
Artigo
País de afiliação:
Alemanha
Instituição/País de afiliação:
University of Tübingen/DE
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