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Memórias do Instituto Oswaldo Cruz

versão impressa ISSN 0074-0276


VELAVAN, Thirumalaisamy Palanichamy et al. Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population. Mem. Inst. Oswaldo Cruz [online]. 2011, vol.106, n.1, pp.65-69. ISSN 0074-0276.

Parasites remain competent invaders of host immunity. Their invasion strategies have proven to impact immunorelevant genes leading to diversity among gene families. We focussed on signal transducer and activator of transcription (STAT6) factor that plays a fundamental role in signal transduction and activation of transcription. Recent studies have highlighted the role of STAT6 variants in control of infection levels. We identified and investigated regulatory single nucleotide polymorphisms (SNPs) in the promoter regions of the STAT6 gene in a group of Gabonese individuals exposed to a variety of parasitic infections. Three promoter variants were identified in 40 individual subjects. We further validated these promoter variants for their allelic gene expression using transient transfection assays. One promoter variant, rs3024944 (G/C), revealed an altered expression of the marker gene. The identification of function-altering SNPs in the promoter may facilitate studying parasite susceptibility in association studies.

Palavras-chave : STAT6; polymorphism; transfection; regulatory T cells.

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