Variant "CASP10:c.922+243C>T"
Search result: 1 record
Variant information
Gene:
CASP10 
Variant:
CASP10:c.922+243C>T 
Genomic location:
chr2:202073149(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_032977.3:c.922+243C>T
protein_coding NM_001206524.1:c.722-644C>T
protein_coding NM_001230.4:c.793+243C>T
protein_coding NM_032976.3:c.*8+243C>T
protein_coding NM_001206542.1:c.793+243C>T
protein_coding NM_032974.4:c.922+243C>T
show all
dbSNP ID:
rs6750157  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Asthma (DOID_2841)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P=0.0009 
    Effect:
    These data suggest a role for CASP10 as a potential modifier of the asthma phenotype, specifically with measures of airway obstruction and BHR.
    Reference:
    PMID18823309
    Title:
    Association of polymorphisms in CASP10 and CASP8 with FEV(1)/FVC and bronchial hyperresponsiveness in ethnically diverse asthmatics.
    Species studied:
    Human
    Abstract:
    Several chromosomal regions have been identified using family-based linkage analysis to contain genes contributing to the development of asthma and allergic disorders. One of these regions, chromosome 2q32-q33, contains a gene cluster containing CFLAR, CASP10 and CASP8. These genes regulate the extrinsic apoptosis pathway utilized by several types of immune and structural cells that have been implicated in the pathogenesis of asthma.