Variant "MBL2:O/O"
Search result: 1 record
Variant information
Gene:
MBL2 
Variant:
MBL2:O/O 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Altered life span(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Expressivity 
    Modifier effect:
    Altered life span 
    Evidence:
    P=0.016 
    Effect:
    TNFalpha-238 G/A and MBL2 O/O genotypes appear to be genetic modifiers of survival of cystic fibrosis.
    Reference:
    PMID17158822
    Title:
    Variants in mannose-binding lectin and tumour necrosis factor alpha affect survival in cystic fibrosis.
    Species studied:
    Human
    Abstract:
    Patients with cystic fibrosis with the same mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene differ widely in survival suggesting other factors have a substantial role in mortality.