Variant "ALOX5:c.-1700G>A"
Search results: 2 records
Variant information
Gene:
ALOX5 
Variant:
ALOX5:c.-1700G>A 
Genomic location:
chr10:45868028(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000698.4:c.-1700G>A
protein_coding NM_001256153.2:c.-1700G>A
protein_coding NM_001256154.2:c.-1700G>A
protein_coding NM_001320861.1:c.-1700G>A
protein_coding NM_001320862.1:c.-39615G>A
OR13A1-ALOX5:n.45868028G>A
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Alias:
ALOX5:rs4986832(5’region) 
dbSNP ID:
rs4986832  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered response to montelukast(1) ,Altered response to zileuton and montelukast therapy(1)  
Details：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to montelukast 
    Evidence:
    P=0.01 
    Effect:
    CYSLTR2 and ALOX5 polymorphisms may predispose a minority of individuals to excessive cysteinyl-leukotriene concentrations, yielding a distinct asthma phenotype most likely to respond to leukotriene modifier pharmacotherapy.
    Alias in reference:
    ALOX5:c.-1700G>A
    Reference:
    PMID17460547
    Title:
    Pharmacogenetics of the 5-lipoxygenase biosynthetic pathway and variable clinical response to montelukast.
    Species studied:
    Human
    Abstract:
    Interindividual clinical response to leukotriene modifiers is highly variable, and less efficacious than inhaled corticosteroids in treating asthma. Genetic variability in 5-lipoxygenase biosynthetic and receptor pathway gene loci may influence cysteinyl-leukotriene production and subsequent response to leukotriene modifiers.
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to zileuton and montelukast therapy 
    Evidence:
    From review article 
    Effect:
    Mutations in ALOX5 Causes a differential response to zileuton and montelukast therapy
    Alias in reference:
    ALOX5:rs4986832(5’region)
    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.