title: Genetic associations of variants of the high affinity receptor for immunoglobulin E in Wegener's granulomatosis.
abstract: Immunoglobulin E (IgE) and the high affinity IgE receptor (FcepsilonRI) have been suggested to contribute to the pathogenesis of autoimmune disorders. Their role in Wegener's granulomatosis (WG) are, however, poorly recognized. We sought a genetic association between laboratory markers for the disease, i.e. anti-proteinase 3 antibodies (anti-PR3), anti-myeloperoxidase antibodies, anti-cyclic citrullinated peptide antibodies, C-reactive protein (CRP), C3c and C4 complement components, and total serum IgE levels in WG subjects with common genetic variants of FcepsilonRI subunits. Anti-PR3 and CRP and serum IgE levels showed significant associations, while complement components tended to be associated, with -18483A > C and/or -344C > T FCER1A (FcepsilonRI alpha-subunit gene) polymorphisms. Moreover, a correlation between -109T > C FCER1B (FcepsilonRI beta-subunit gene) genotypes and serum IgE was observed. Both WG specific auto-antibodies and other blood inflammatory markers displayed correlations with serum total IgE levels and genetic variants of the high affinity receptor for this immunoglobulin. This observation suggests a functional relantionship of FcepsilonRI in the regulation of autoimmune response observed in WG.
authors.affiliation: Department of Internal Medicine, Jagiellonian University Medical College, Kraków, Poland. mmsanak@cyf-kr.edu.pl
authors.forename: Marek
authors.initials: M
authors.lastname: Sanak
authors.forename: Daniel P
authors.initials: DP
authors.lastname: Potaczek
authors.forename: Jan
authors.initials: J
authors.lastname: Sznajd
authors.forename: Jacek
authors.initials: J
authors.lastname: Musiał
authors.forename: Andrzej
authors.initials: A
authors.lastname: Szczeklik
mesh_terms: D002097:C-Reactive Protein / Q000378:metabolism; D015932:Complement C3c / Q000378:metabolism; D003181:Complement C4 / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D014890:Granulomatosis with Polyangiitis / Q000235:genetics* / Q000276:immunology*; D006579:Heterozygote; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D017455:Receptors, IgE / Q000235:genetics*
chemical_list: D003181:Complement C4; D017455:Receptors, IgE; D007073:Immunoglobulin E; D015932:Complement C3c; D002097:C-Reactive Protein