PhenoModifier-Variant Detail

Variant "GLCCI1:c.-1473T>C"

Search result: 1 record

Variant information

Gene:

GLCCI1

Variant:

GLCCI1:c.-1473T>C

Genomic location:

chr7:8007509(hg19)

HGVS:

SO Term	RefSeq
protein_coding	NM_138426.3:c.-1473T>C
pseudogene	NR_110018.1:n.209+666A>G

dbSNP ID:

rs37972

GWAS trait:

no data

Modifier statisitcs

Record:

1

Disorder:

1

Reference:

1

Effect type:

Expressivity(1)

Modifier effect:

Altered response to corticosteroid(1)

Detail：

Target disease:

Asthma (DOID_2841)

Effect type:

Expressivity

Modifier effect:

Altered response to corticosteroid

Evidence:

From review article

Effect:

Mutations in GLCCI is Associated with corticosteroid response potential transcriptional mechanism

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.