Variant "ABCC1:c.49-14840C>T"
Search results: 2 records
Variant information
Gene:
ABCC1 
Variant:
ABCC1:c.49-14840C>T 
Genomic location:
chr16:16086833(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_004996.3:c.49-14840C>T
dbSNP ID:
rs119774  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered response to leukotriene modifiers(1) ,Altered response to zileuton and montelukast therapy(1)  
Details：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to leukotriene modifiers 
    Evidence:
    From review article 
    Effect:
    Variants in ALOX5, LTA4H, LTC4S, ABCC1, CYSLTR2, and SLCO2B1 contribute to variability in response to leukotriene modifiers
    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 zileuton and montelukast therapy 
    Evidence:
    From review article 
    Effect:
    Mutations in MRP1 Causes a differential response to zileuton and montelukast therapy
    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.