Variant "CD14:c.-159C>T"
Search result: 1 record
Variant information
Gene:
CD14 
Variant:
CD14:c.-159C>T 
Genomic location:
chr5:140012916(hg19) 
HGVS:
SO Term RefSeq
protein_coding NM_000591.3:c.-260T>C
protein_coding NM_001040021.2:c.-121-139T>C
protein_coding NM_001174104.1:c.-221-39T>C
protein_coding NM_001174105.1:c.-121-139T>C
dbSNP ID:
rs2569190  
GWAS trait:
no data 
Modifier statisitcs
Record:
1 
Disorder:
1 
Reference:
1 
Effect type:
Expressivity(1)  
Modifier effect:
Risk factor(1)  
Detail：
  • Target disease:
    Allergic (NCIT_C37910)
    Effect type:
    Expressivity 
    Modifier effect:
    Risk factor 
    Evidence:
    P<0.002, Pcorr<0.01 
    Effect:
    CD14 gene variants may act as disease modifiers of IgE-mediated allergic diseases.
    Reference:
    PMID14510720
    Title:
    Two CD14 promoter polymorphisms and atopic phenotypes in Czech patients with IgE-mediated allergy.
    Species studied:
    Human
    Abstract:
    Immunoglobulin E (IgE)-mediated allergy belongs to common chronic disorders resulting from an interaction between both genetic and environmental factors. The gene encoding CD14 is a positional candidate gene for allergic diseases as it is localized on chromosome 5q31.1, a region that is linked to asthma and bronchial hyperresponsiveness. Recently, several polymorphisms in the promoter region of this gene have been associated with atopic phenotypes in various populations.