Variant "DLG5:Arg30Gln"
Search result: 1 record
Variant information
Gene:
DLG5 
Variant:
DLG5:Arg30Gln 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Altered incidence(1)  
Detail：
  • Target disease:
    Crohn's Disease (DOID_8778)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=0.39, 95% CI: 0.2-0.77, P= 0.006 
    Effect:
    Have a protective effect in CD susceptibility for female children
    Reference:
    PMID17156146
    Title:
    DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease.
    Species studied:
    Human
    Abstract:
    A significant association between the DLG5 variant (R30Q) and inflammatory bowel disease (IBD) has been confirmed in several independent adult IBD cohorts. There is growing evidence that gender significantly influences R30Q susceptibility in Crohn's disease (CD). Pediatric onset CD features a significantly lower incidence for female children compared with male children. We, therefore, studied the influence of gender on R30Q susceptibility in an exclusively pediatric onset IBD cohort.