FcepsilonRIalpha gene -18483A>C polymorphism affects transcriptional activity through YY1 binding

Immunogenetics. 2009 Sep;61(9):649-55. doi: 10.1007/s00251-009-0391-x. Epub 2009 Aug 14.

Abstract

Three frequent genetic polymorphisms in the human high-affinity IgE receptor alpha-subunit (FcepsilonRIalpha) 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 FcepsilonRIalpha 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 FcepsilonRIalpha distal promoter in monocytes in which FcepsilonRIalpha 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Electrophoretic Mobility Shift Assay
  • Humans
  • Polymorphism, Single Nucleotide*
  • Receptors, IgE / genetics*
  • Transcription, Genetic*
  • White People / genetics
  • YY1 Transcription Factor / metabolism*

Substances

  • FcepsilonRI alpha-chain, human
  • Receptors, IgE
  • YY1 Transcription Factor