Variant "HLA:(B*44:03)"
Search result: 1 record
Variant information
Gene:
HLA 
Variant:
HLA:(B*44:03) 
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:
    Familial Mediterranean Fever (DOID_2987)
    Effect type:
    Penetrance 
    Modifier effect:
    Altered incidence 
    Evidence:
    OR=0.63, 95% CI: (0.39– 1.00), P=0.047 
    Effect:
    Affect penetrance of the MEFV mutations
    Reference:
    PMID25974247
    Title:
    Identification of Disease-Promoting HLA Class I and Protective Class II Modifiers in Japanese Patients with Familial Mediterranean Fever.
    Species studied:
    Human
    Abstract:
    The genotype-phenotype correlation of MEFV remains unclear for the familial Mediterranean fever (FMF) patients, especially without canonical MEFV mutations in exon 10. The risk of FMF appeared to be under the influence of other factors in this case. The contribution of HLA polymorphisms to the risk of FMF was examined as strong candidates of modifier genes.