Variant "ARG1:c.-2603A>G"
Search result: 1 record
Variant information
Gene:
ARG1 
Variant:
ARG1:c.-2603A>G 
Genomic location:
chr6:131891820(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_001244438.1:c.-2603A>G
protein_coding NM_000045.3:c.-2603A>G
protein_coding NM_001270521.1:c.*3613T>C
protein_coding NM_015979.3:c.*3613T>C
AKAP7-ARG1:n.131891820A>G
dbSNP ID:
rs2781659  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered response to b2AR agonist(1)  
Detail：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to b2AR agonist 
    Evidence:
    From review article 
    Effect:
    Mutations in ARG I Haplotypes increase ARG1 transcription, leading to improved response to b2AR agonist
    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.