title: Genetic variability of the high-affinity IgE receptor alpha subunit (Fc epsilon RI alpha) is related to total serum IgE levels in allergic subjects.
abstract: Known susceptibility genes to atopy and asthma have been identified by linkage or associations with clinical phenotypes, including total serum IgE levels. IgE-mediated sensitivity reactions require a high-affinity IgE receptor (FcepsilonRI), which immobilizes the immunoglobulin on the surface of the effector cells, mostly mast cells and basophils. In this mini-review, recent findings are presented on genetic variation of this receptor, as related to atopy. Transcription of FCER1A gene encoding the receptor alpha subunit can be initiated from two separate promoters, the proximal one and the distal one, which results in a transcript containing two novel untranslated exons (1A, 2A). Our knowledge on the role of this mechanism in allergic diseases is still at an infancy stage. Within regulatory elements of FCER1A some common single nucleotide polymorphisms have functional associations, which were recently reported and replicated in different ethnical groups. Interestingly, these associations do not confer susceptibility to allergic diseases, but rather modulate serum concentrations of IgE. Similarly to the previously investigated beta subunit of the receptor, FCER1A is a good candidate for a quantitative trait locus (QTL) in allergic diseases, and appears to participate in the systemic regulation of IgE levels.
authors.affiliation: Department of Medicine, Jagiellonian University School of Medicine, Cracow, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Sanak
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Potaczek
authors.forename: Ewa
authors.initials: E
authors.lastname: Nizankowska-Mogilnicka
authors.forename: Andrew
authors.initials: A
authors.lastname: Szczeklik
mesh_terms: D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D006967:Hypersensitivity / Q000097:blood / Q000235:genetics / Q000276:immunology*; D007073:Immunoglobulin E / Q000097:blood*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D021122:Protein Subunits / Q000737:chemistry / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D017455:Receptors, IgE / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism / Q000502:physiology
chemical_list: C475664:FCER1A protein, human; D021122:Protein Subunits; D017455:Receptors, IgE; D007073:Immunoglobulin E