Variant "Haplotype:(MTHFR:677CT,MTHFR:1298AC)"
Search result: 1 record
Variant information
Gene:
Haplotype 
Variant:
Haplotype:(MTHFR:677CT,MTHFR:1298AC) 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Penetrance(1)  
Modifier effect:
Prevention of disease(1)  
Detail：
  • Target disease:
    Acute Lymphocytic Leukemia (DOID_9952)
    Effect type:
    Penetrance 
    Modifier effect:
    Prevention of disease 
    Evidence:
    (p value=0.002) with 3.65 fold protection (OR=0.273 & 95% CI: 0.155-0.9) compared to 2.6 folds for MTHFR 1298AC alone. 
    Effect:
    C677T and A1299C Polymorphism as Risk Modifiers of Pediatric Acute Lymphoblastic Leukemia
    Reference:
    PMID19034339
    Title:
    Synergistic effect of methyltetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphism as risk modifiers of pediatric acute lymphoblastic leukemia.
    Species studied:
    Human
    Abstract:
    ALL is the most common pediatric cancer. The causes of the majority of pediatric acute leukemia are unknown and are likely to involve an interaction between genetic and environmental factors. Therefore, unfavourable gene-environmental interactions might be involved in the genesis of ALL. The aim of this work was to evaluate, in a case-control study, whether the common polymorphisms in 5, 10-methylenetetrahydrofolate reductase (MTHFR) namely (C677T and A1298C) and methionine synthase (MS) (A2756G) genes may play a role in altering susceptibility to pediatric ALL as individual genes and in combination.