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rs2251746

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) lowest IgE levels
(C;T) lower IgE levels
(T;T) 0 normal but highest IgE levels
ReferenceGRCh38 38.1/141
Chromosome1
Position159302270
GeneFCER1A
is asnp
is mentioned by
dbSNPrs2251746
ebirs2251746
HLIrs2251746
Exacrs2251746
Varsomers2251746
Maprs2251746
PheGenIrs2251746
hapmaprs2251746
1000 genomesrs2251746
hgdprs2251746
ensemblrs2251746
gopubmedrs2251746
geneviewrs2251746
scholarrs2251746
googlers2251746
pharmgkbrs2251746
gwascentralrs2251746
openSNPrs2251746
23andMers2251746
23andMe allrs2251746
SNP Nexus

SNPshotrs2251746
SNPdbers2251746
MSV3drs2251746
GWAS Ctlgrs2251746
GMAF0.1492
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs2251746 is a SNP in the gene encoding the alpha chain of the high affinity receptor for IgE (FCER1A) on chromosome 1q23. High levels of serum IgE are associated with allergies, and are mediators of autoimmune diseases.

An examination of over 11,000 Germans led to the conclusion that rs2251746 (and one other FCER1A SNP, the tightly linked rs2427837) were strongly associated with high levels of serum IgE. The more common (T) allele was associated with higher serum IgE, and the effect appeared to be additive. Therefore, homozygous rs2251746(C;C) individuals may be at lower risk for atopic eczema and asthma than carriers of one or two (T) alleles. [PMID 18846228OA-icon.png]

In Japanese patients, rs2251746 may be a poor predictor, and the neighboring rs2427827 may be more appropriate. [PMID 20141544]

GWAS
SNP rs2251746
PubMedID [PMID 18846228OA-icon.png]
Condition Serum IgE levels
Gene FCER1A
Risk Allele C
pValue 2.00E-020
OR 19.2
95% CI NR) % decreas



[PMID 22222815] Association of polymorphisms in the promoter region of FCER1A gene with atopic dermatitis, chronic uticaria, asthma, and serum immunoglobulin E levels in a Han Chinese population

GWAS snp
PMID [PMID 22075330OA-icon.png]
Trait
Title A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.
Risk Allele C
P-val 5E-26
Odds Ratio 0.0900 None

[PMID 19245427] Common variants in FCER1A influence total serum IgE levels from cord blood up to six years of life.

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 20141544] FcepsilonRIalpha gene (FCER1A) promoter polymorphisms and total serum IgE levels in Japanese atopic dermatitis patients.

[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


GET Evidence
rs2251746
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.171875
summary



[PMID 23725541] Different FCER1A polymorphisms influence IgE levels in asthmatics and non-asthmatics.


[PMID 25029546OA-icon.png] A Disease Marker for Aspirin-Induced Chronic Urticaria


[PMID 25923080OA-icon.png] An Exploratory Pilot Study of Genetic Marker for IgE-Mediated Allergic Diseases with Expressions of FcεR1α and Cε


[PMID 27746735] FCERI and Histamine Metabolism Gene Variability in Selective Responders to NSAIDS.