FcεRIα gene –18483A>C polymorphism affects transcriptional activity through YY1 binding
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- Potaczek, D.P., Maeda, K., Wang, QH. et al. Immunogenetics (2009) 61: 649. doi:10.1007/s00251-009-0391-x
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Three frequent genetic polymorphisms in the human high-affinity IgE receptor α-subunit (FcεRIα) were shown to be associated with allergic disorders and/or total serum IgE levels in allergic patients. Two of these were previously demonstrated to affect FcεRIα expression while the third –18483A>C (rs2494262) has not yet been subjected to functional studies. We hypothesized that the –18483A>C variant affects transcriptional activity of the FcεRIα distal promoter in monocytes in which FcεRIα transcription is driven through that regulatory region. Indeed, we confirmed preferential binding of the YY1 transcription factor to the –18483C allele, resulting in lower transcriptional activity when compared with the –18483A allele.