rs2251746
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | lowest IgE levels | |
| (C;T) | lower IgE levels | |
| (T;T) | 0 | normal but highest IgE levels |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 159302270 |
| Gene | FCER1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2251746 |
| dbSNP (classic) | rs2251746 |
| ClinGen | rs2251746 |
| ebi | rs2251746 |
| HLI | rs2251746 |
| Exac | rs2251746 |
| Gnomad | rs2251746 |
| Varsome | rs2251746 |
| LitVar | rs2251746 |
| Map | rs2251746 |
| PheGenI | rs2251746 |
| Biobank | rs2251746 |
| 1000 genomes | rs2251746 |
| hgdp | rs2251746 |
| ensembl | rs2251746 |
| geneview | rs2251746 |
| scholar | rs2251746 |
| rs2251746 | |
| pharmgkb | rs2251746 |
| gwascentral | rs2251746 |
| openSNP | rs2251746 |
| 23andMe | rs2251746 |
| SNPshot | rs2251746 |
| SNPdbe | rs2251746 |
| MSV3d | rs2251746 |
| GWAS Ctlg | rs2251746 |
| GMAF | 0.1492 |
| Max Magnitude | 0 |
| ? | (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 18846228
]
In Japanese patients, rs2251746 may be a poor predictor, and the neighboring rs2427827 may be more appropriate. [PMID 20141544]
| GWAS | |
|---|---|
| SNP | rs2251746 |
| PubMedID | [PMID 18846228]
|
| 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 22075330]
|
| 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 19474294] 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 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 23725541] Different FCER1A polymorphisms influence IgE levels in asthmatics and non-asthmatics.
[PMID 25029546] A Disease Marker for Aspirin-Induced Chronic Urticaria
[PMID 25923080] 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.
[PMID 29243845] FcεR1α gene polymorphism shows association with high IgE and anti-FcεR1α in Chronic Rhinosinusitis with Nasal Polyposis.
