RGD Reference Report - Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness.

General

Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness.
Authors:	Kim, YK Park, HW Yang, JS Oh, SY Chang, YS Shin, ES Lee, JE Kim, S Gho, YS Cho, SH Min, KU Kim, YY
Citation:	Kim YK, etal., Clin Exp Allergy. 2007 Apr;37(4):592-8.
RGD ID:	5131116
Pubmed:	PMID:17430357 (View Abstract at PubMed)
DOI:	DOI:10.1111/j.1365-2222.2007.02680.x (Journal Full-text)
BACKGROUND: The hyper-sensitivity reaction of IgE, with its high-affinity receptors (FcepsilonRI), is central to the phenomenon of atopic diseases. OBJECTIVE: To evaluate the genetic effects of non-synonymous single-nucleotide polymorphisms (SNPs) of FcepsilonRI on intermediate phenotypes of asthma, i.e. atopy and airway hyper-responsiveness (AHR), in the Korean general population. SUBJECTS AND METHODS: Atopy and AHR were evaluated in a cohort of 2055 subjects, aged 10-18 years, using skin prick tests (SPTs) for common aeroallergens and total serum IgE and methacholine bronchial provocation tests. All FcepsilonRI-alpha, FcepsilonRI-beta, and FcepsilonRI-gamma gene exons of 24 healthy subjects were sequenced to locate informative non-synonymous SNPs (minor allele frequency>2%). Informative SNPs were then scored, using the high-throughput single base extension method. Relative risk (RR) was determined by multiple logistic regression analysis, after adjusting for confounding factors. The functional relevance of non-synonymous SNPs was analysed using the sorting intolerant from tolerant (SIFT) program. RESULTS: The SNP search found only one informative non-synonymous SNP in FcepsilonRI-beta: E237G (minor allele frequency=0.21). The positive rate of AHR was lower among subjects with the 237E allele than among those with 237G [RR (95% confidence interval)=0.41 (0.19-0.89); P=0.01]. However, the E237G substitution was not associated with either a positive SPT response or total serum IgE levels. Sequence evolution analysis predicted that the E237G variation is an intolerant amino acid substitution, with functional importance. CONCLUSION: In the Korean general population, AHR is significantly associated with the E237G polymorphism of FcepsilonRI-beta, which results in an intolerant amino acid substitution.

RGD Manual Disease Annotations Click to see Annotation Detail View

Only show annotations with direct experimental evidence (0 objects hidden)

Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
Bronchial Hyperreactivity	susceptibility	IAGP		5131116	DNA:polymorphism:CDS: E237G (human)	RGD
Bronchial Hyperreactivity	susceptibility	ISO	MS4A2 (Homo sapiens)	5131116; 5131116	DNA:polymorphism:CDS: E237G (human)	RGD

Objects Annotated

Genes (Rattus norvegicus)

Ms4a2 (membrane spanning 4-domains A2)

Genes (Mus musculus)

Ms4a2 (membrane-spanning 4-domains, subfamily A, member 2)

Genes (Homo sapiens)

MS4A2 (membrane spanning 4-domains A2)

Additional Information

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message

Association and functional relevance of E237G, a polymorphism of the high-affinity immunoglobulin E-receptor beta chain gene, to airway hyper-responsiveness.