Association between atopy and variants of the β subunit of the high–affinity immunoglobulin E receptor

@article{Shirakawa1994AssociationBA,
  title={Association between atopy and variants of the $\beta$ subunit of the high–affinity immunoglobulin E receptor},
  author={Taro Shirakawa and Airong Li and M. Dubowitz and James W. Dekker and Ann E. Shaw and Jennie A. Faux and Chisei Ra and William Ocm Cookson and Julian M. Hopkin},
  journal={Nature Genetics},
  year={1994},
  volume={7},
  pages={125-130}
}
The β–subunit of the high–affinity IgE receptor (FcεRI–β) on chromosome 11 is maternally linked to atopy, the state of enhanced IgE responsiveness underlying allergic asthma and rhinitis. We have identified a common variant of FcεRI–β, lle181Leu within the 4th transmembrane domain. Leu181 shows significant association with positive IgE responses in a random patient sample. Amongst 60 unrelated nuclear families with allergic asthmatic probands, Leu181 is identified in 10 (17%), is maternally… 
Exclusion of chromosome 11q and the FcεRI‐β gene as aetiological factors in allergy and asthma in a population of Dutch asthmatic families
  • Amelung, Postma, Xu, Meyers, Bleecker
  • Medicine, Biology
    Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
  • 1998
TLDR
In this study, a maternally inherited association was found between the presence of a variant of FcεRI‐β, Ile181Leu, and high total serum IgE levels, and no evidence for linkage of atopy or bronchial hyperresponsiveness to chromosome 11q.
Absence of Mutations in the 6Th Exon of FcεRI-β
TLDR
Transmission of atopy at the 11ql3 locus as well as the predictive value of the mutation could only be found through maternally derived alleles3,4.
Association between asthma and an intragenic variant of CC16 on chromosome 11q13
TLDR
Data support the candidacy of FcsRIβ rather than CC16 for the atopic asthma locus on chromosome 11q, and no significant association was found between asthma and CC16 genotypes irrespective of atopic status.
Mutational analysis of the high affinity immunoglobulin E receptor β subunit gene in asthma
TLDR
The results suggest that, in the population studied, linkage of asthma and BHR to 11q13 is not explained by mutations in the FcεRI-β gene, which is linked with clinical asthma and certain mutations have been identified.
Genetic Variability of the High-affinity IgE Receptor α Subunit (Fc ε RI α) is Related to Total Serum IgE levels in Allergic Subjects.
TLDR
In this mini-review, recent findings are presented on genetic variation of this receptor, as related to atopy, and 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.
The beta subunit of the high‐affinity IgE receptor, a candidate for atopic dermatitis, is not imprinted
TLDR
It is found that the Fc1RI-b gene shows no parent-of-origin-specific expression, using F1 hybrids between a laboratory mouse strain (C57BL/6J) and wild mouse strains [either Mus musculus molossinus (MOLF/Ei) or M. spretus (SPretus)].
Gene in a Swiss Population of Asthmatic Children : No Association with E 237 G and Identification of New Sequence Variations
TLDR
The aim was to investigate a Swiss population of atopic and asthmatic children for variations in this gene and screened all 7 exons of the FcεRI-βgene using exon amplification by PCR and single strand conformation polymorphism analysis followed by fluorescence based DNA.
Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor
TLDR
Polymorphisms within the FcεRI‐β gene are strongly associated with atopic dermatitis, and these findings were replicated in Panel B, confirming the association of Fc⩽βRsaI polymorphisms with atopy dermatitis.
Atopy phenotype in subjects with variants of the beta subunit of the high affinity IgE receptor.
TLDR
The Leu 181 variant of Fc epsilon RI-beta, or another identified variant in linkage disequilibrium, may promote the development of atopy.
LD mapping of maternally and non-maternally derived alleles and atopy in FcεRI-β
TLDR
Two regions of increased CpG concentration were identified in Fc epsilon RI-beta, providing a potential substrate for epigenetic effects and approximated a SNP cluster that showed strong association and maternal effects.
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References

SHOWING 1-10 OF 55 REFERENCES
Genetic analysis of the linkage between chromosome 11q and atopy
TLDR
This work has studied nine families of two and, in many instances, three generations with the index case having asthma and/or atopy, and has been unable to confirm a significant link between this region of chromosome 11q and atopy.
Confirmation of genetic linkage between atopic IgE responses and chromosome 11q13.
TLDR
A test of genetic heterogeneity in the nuclear families shows that atopic IgE responses are linked to this locus in 60 to 100% of families (approximate 95% confidence limits).
The B-cell binding site on human immunoglobulin E
TLDR
FcσR2 can recognize a motif in the Cσ3 domain that is formed on dimerization of one or both of the flanking domains, and Glycosylation of IgE is not required for the activity of either receptor.
Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p
  • P. Amelung, C. Panhuysen, D. Meyers
  • Medicine, Biology
    Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
  • 1992
TLDR
By restudying these probands as well as their family members, it was unable to find evidence for linkage between atopy or bronchial hyperresponsiveness and these regions of chromosomes 11 and 6 in this population.
Complete structure and expression in transfected cells of high affinity IgE receptor
TLDR
The cloning of cDNA for the γ subunit is reported, and a model for the αβγ2 tetramer which accounts for many of the structural features of the receptor is proposed, to permit the detailed analysis of the human IgE-receptor interaction and assist the search for therapeutically effective inhibitors.
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