Gene "LTC4S"
Found 3 records
Gene information
Gene symbol:
LTC4S
See related:
Ensembl: ENSG00000283887, Gene ID: 4056
Additive variants :
Undetected
Genetic interaction partners
No data
Modifier statisitcs
Record:
3 
Disorder:
2 
Vriant:
2 
Reference:
2 
Effect type:
Expressivity(3)  
Modifier effect:
Altered response to zileuton therapy(2) ,Risk factor(1)  
Details：
  • Variant 1:
    LTC4S:c.-444A>C
    Gene:
    LTC4S
    Genomic location:
    chr5:179220638
    dbSNP ID:
    rs730012
    Alias:
    LTC4S:(-444)A/C
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to zileuton therapy 
    Evidence:
    From review article 
    Effect:
    Mutations in LTC4S is Associated with LTRA and LTSI response and Causes a differential response to zileuton 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.
  • Variant 2:
    LTC4S:c.-444A>C
    Gene:
    LTC4S
    Genomic location:
    chr5:179220638
    dbSNP ID:
    rs730012
    Alias:
    LTC4S:(-444)A/C
    Target disease:
    Sickle Cell Anemia(DOID_10923)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    OR=0.35; 95% CI: 0.1 to 0.9; p=0.03 
    Effect:
    The LTC4S(-444) A/C variant suggest that these loci may also contribute to large vessel stroke risk in children with SCA.
    Reference:
    PMID17600229
    Title:
    Confirmation of an association between the TNF(-308) promoter polymorphism and stroke risk in children with sickle cell anemia.
    Species studied:
    Human
    Abstract:
    The etiology of stroke in children with sickle cell anemia (SCA) is complex and poorly understood. Growing evidence suggests that genetic factors beyond the sickle cell mutation influence stroke risk in SCA. We previously reported risk associations with polymorphisms in several proinflammatory genes in SCA children with ischemic stroke. The aim of this replication study was to confirm our previous findings of associations between the TNF(-308) G/A, IL4R 503 S/P, and ADRB2 27 Q/E polymorphisms and large vessel stroke risk.
  • Variant 3:
    LTC4S:c.*3256C>A
    Gene:
    LTC4S
    Genomic location:
    chr5:179221789
    dbSNP ID:
    rs272431
    Target disease:
    Asthma(DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response to zileuton therapy 
    Evidence:
    From review article 
    Effect:
    Mutations in LTC4S is Associated with LTRA and LTSI response and Causes a differential response to zileuton 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.