Variant "HLA-II:DR4"
Search result: 1 record
Variant information
Gene:
HLA-II 
Variant:
HLA-II:DR4 
dbSNP ID:
no data 
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Pleiotropy(1)  
Modifier effect:
Altered CF-associated pulmonary inflammation(1)  
Detail：
  • Target disease:
    Cystic fibrosis (DOID_1485)
    Effect type:
    Pleiotropy 
    Modifier effect:
    Altered CF-associated pulmonary inflammation 
    Evidence:
    P<5.10×10(-4), relative risk = 27 
    Effect:
    HLA polymorphism contributes to CF-associated pulmonary inflammation.
    Reference:
    PMID10228112
    Title:
    HLA class II polymorphism in cystic fibrosis. A possible modifier of pulmonary phenotype.
    Species studied:
    Human
    Abstract:
    Evolution of lung damage is highly variable in cystic fibrosis (CF) even in patients with the same cystic fibrosis transmembrane conductance regulator (CFTR) mutations. The analysis of genetic factors other than CFTR may help our understanding of genotype-phenotype relationships in CF. As human leukocyte antigen (HLA) class II polymorphism has been associated with a number of diseases including autoimmune and inflammatory diseases, asthma, and allergy, we investigated the possibility that HLA polymorphism contributes to CF-associated pulmonary inflammation. Among the 98 adult CF patients tested, the genotypic frequencies of DR4 and DR7 alleles (serologic group DR53) and DR7/ DQA*0201 haplotype were higher than in 39 selected control subjects without atopy (p