PhenoModifier-Variant Detail

Variant "FCER2:c.621+7T>C"

Search results: 2 records

Variant information

Gene:

FCER2

Variant:

FCER2:c.621+7T>C

Genomic location:

chr19:7755285(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_001220500.1:c.621+7T>C
protein_coding	NM_001207019.2:c.618+7T>C
protein_coding	NM_002002.4:c.621+7T>C

dbSNP ID:

rs28364072

GWAS trait:

no data

Modifier statisitcs

Record:

2

Disorder:

1

Reference:

2

Effect type:

Expressivity(2)

Modifier effect:

Altered response to corticosteroid(1) ,Risk factor(1)

Details：

Target disease:

Asthma (DOID_2841)

Effect type:

Expressivity

Modifier effect:

Risk factor

Evidence:

From review article

Effect:

A novel variant in FCER2 was associated with increased risk of exacerbations in asthmatic children taking ICSs despite generally protective effects of this medication class.Variants in CRHR1, TBX21, and FCER2 contribute to variability in response for lung function, airways responsiveness, and exacerbations in patients taking inhaled corticosteroids.

Reference:

PMID19077707

Title:

Pharmacogenetics of asthma.

Species studied:

Human

Abstract:

Patient response to the asthma drug classes, bronchodilators, inhaled corticosteroids and leukotriene modifiers, are characterized by a large degree of heterogeneity, which is attributable in part to genetic variation. Herein, we review and update the pharmacogenetics and pharmaogenomics of common asthma drugs.
Target disease:

Asthma (DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered response to corticosteroid

Evidence:

From review article

Effect:

Mutations in FCER2 is Associated with asthma exacerbations in the presence of corticosteroids

Reference:

PMID22455494

Title:

Genetic basis for personalized medicine in asthma.

Species studied:

Human

Abstract:

There is heterogeneity in patient responses to current asthma medications. Significant progress has been made identifying genetic polymorphisms that influence the efficacy and potential for adverse effects to asthma drugs, including; β(2)-adrenergic receptor agonists, corticosteroids and leukotriene modifiers. Pharmacogenetics holds great promise to maximise clinical outcomes and minimize adverse effects. Asthma is heterogeneous with respect to clinical presentation and inflammatory mechanisms underlying the disease, which is likely to contribute to variable results in clinical trials targeting specific inflammatory mediators. Genome-wide association studies have begun to identify genes underlying asthma (e.g., IL1RL1), which represent future therapeutic targets. In this article, we review and update the pharmacogenetics of current asthma therapies and discuss the genetics underlying selected Phase II and future targets.