Molecular characterization of regulatory polymorphisms in the promoter region of the STAT6 gene in a Gabonese population

Thirumalaisamy Palanichamy Velavan, Silke Bechlars, Jürgen Tomiuk, Peter G Kremsner, Jürgen FJ Kun
2011 Memórias do Instituto Oswaldo Cruz  
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
more » ... 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 functionaltering SNPs in the promoter may facilitate studying parasite susceptibility in association studies.
doi:10.1590/s0074-02762011000100011 pmid:21340358 fatcat:zbowllz2tbfd5plyqyrk42upjy