caa a22 4500 397575750 CHVBK 20180308164855.0 cr unu---uuuuu 161202e199607 xx s 000 0 eng 10.1093/hmg/5.7.959 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.7.959 A New Variant of the β Subunit of the High-Affinity Receptor for Immunoglobulin E (FcεRI-β E237G): Associations with Measures of Atopy and Bronchial Hyper-Responsiveness [Elektronische Daten] [M. R. Hill, W. O. C. M. Cookson] The high affinity receptor for IgE (FcεRI) has a central role in mast cell degranulation and IgE mediated allergy. A systematic search through the coding regions of the beta subunit of FcεRI (FcεRI-β) has identified a novel coding polymorphism in exon seven. An adenine to guanine substitution changes amino acid residue 237 from glutamic acid to glycine (E237G), in the cytoplasmic tail of the protein. E237G is predicted to introduce a hydrophobicity change within the C-terminus of FcεRI-β. It is adjacent to the immunoreceptor tyrosine activation motif (ITAM), and may affect the intracellular signalling capacity of FcεRI. E237G was detected in 53 subjects from an Australian general population sample of 1004 individuals (5.3%). E237G positive subjects had a significantly elevated skin test response to grass (p = 0.0004) and house dust mite (p = 0.04), RAST to grass (p = 0.002) and bronchial reactivity to methacholine (p = 0.0009). The relative risk of individuals with E237G having asthma compared to subjects without the variant was 2.3 (95% CI 1.26-4.19; p = 0.005). © 1996 Oxford University Press Hill M. R. Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK aut Cookson W. O. C. M. Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK aut Human Molecular Genetics Oxford University Press 5/7(1996-07), 959-962 0964-6906 5:7<959 1996 5 hmg https://doi.org/10.1093/hmg/5.7.959 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.7.959 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hill M. R. Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK aut NATIONALLICENCE 700 1- Cookson W. O. C. M. Nuffield Department of Clinical Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/7(1996-07), 959-962 0964-6906 5:7<959 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford