Abstract
Our knowledge on the variability of FCER1A gene encoding for α-subunit of the high-affinity immunoglobulin E receptor (FcεRI) that plays a central role in the pathogenesis of allergy and related disorders, has been recently much extended. Last findings from FCER1A mutational screening and genetic association studies, followed by functional analyses of the polymorphisms, are briefly summarized in this mini-review. The association between FCER1A gene variants and total serum IgE levels seems especially interesting and, supported by functional analyses of polymorphisms, may provide a rationale for pharmacogenetic studies on anti-IgE therapy that indirectly suppresses FcεRI expression.
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Notes
*All FCER1A polymorphisms denoted by “asterisk” in the current paper are numbered according to translation start site; −778 A>C, −673 G>A and −344 C>T were originally described as −770 A>C, −664 G>A and −335 C>T, respectively [10]; in papers by Hasegawa et al. [11] and Kanada et al. [22], −95 T>C and −344 C>T polymorphisms were numbered according to transcription start site as −66 T>C and −315 C>T, respectively.
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D.P.P. was awarded Japan Society for the Promotion of Science (JSPS) fellowship.
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Potaczek, D.P., Nishiyama, C., Sanak, M. et al. Genetic variability of the high-affinity IgE receptor α-subunit (FcεRIα). Immunol Res 45, 75–84 (2009). https://doi.org/10.1007/s12026-008-8042-0
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DOI: https://doi.org/10.1007/s12026-008-8042-0