Variant "Haplotype:(KRT8:rs1907671,rs4300473,rs2035878,rs2035875)"
Search result: 1 record
Variant information
Gene:
Haplotype 
Variant:
Haplotype:(KRT8:rs1907671,rs4300473,rs2035878,rs2035875) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered severity(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered severity 
    Evidence:
    P=0.0051 
    Effect:
    The KRT8 haplotype 2211 was associated with mild CF disease while 1122 was observed as risk haplotype.
    Reference:
    PMID21548936
    Title:
    An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion.
    Species studied:
    Human
    Abstract:
    F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking. We have investigated the two neighbouring cytokeratin genes KRT8 and KRT18 in a candidate gene approach to ask whether variants in KRT8 and/or KRT18 modify the impaired ion conductance known as the CF basic defect, and whether they are associated with correct trafficking of mutant CFTR and disease severity of CF.