Variant "TBX21:c.99C>G(p.His33Gln)"
Search results: 2 records
Variant information
Gene:
TBX21 
Variant:
TBX21:c.99C>G(p.His33Gln) 
Genomic location:
chr17:45810919(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_013351.1:c.99C>G(p.His33Gln)
dbSNP ID:
rs2240017  
GWAS trait:
no data 
Modifier statisitcs
Record:
2 
Disorder:
1 
Reference:
2 
Effect type:
Expressivity(2)  
Modifier effect:
Altered response for lung function(1) ,Altered response to asthma therapy(1)  
Details：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered response for lung function 
    Evidence:
    From review article 
    Effect:
    Variants in CRHR1, TBX21, and FCER2 contribute to variability in response for lung function, airways responsiveness, and exacerbations in patients taking inhaled corticosteroids.
    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 asthma therapy 
    Evidence:
    From review article 
    Effect:
    In the TBX21 (H33Q), the gene coding for transcription factor T-bet (T-box expressed in T cells), is associated with significant improvement in methacholine responsiveness in children with asthma.
    Reference:
    PMID21206697
    Title:
    Pharmacogenomics of pediatric asthma.
    Species studied:
    Human
    Abstract:
    Asthma is a complex disease with multiple genetic and environmental factors contributing to it. A component of this complexity is a highly variable response to pharmacological therapy. Pharmacogenomics is the study of the role of genetic determinants in the variable response to therapy. A number of examples of possible pharmacogenomic approaches that may prove of value in the management of asthma are discussed below.