Annotation Detail

Information
Associated Genes
IL4
Associated Variants
IL4R p.Gln576Arg (p.Q576R) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
rs2243248
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
rs2243248
Associated Disease
glioblastoma
Source Database
DisGeNET
Description
The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = 2.29; 95% CI, 1.20 - 4.35; p = 0.0081) We further analyzed whether the six cytokine genes have a different effect on the disease in gender specific population, and found that the allele G of rs2243248 in the IL-4 gene showed a decrease risk of GBM in female (OR = 0.35, 95% CI, 0.13 - 0.94, p = 0.0032), but the allele T showed a decrease risk in male (OR = 0.30, 95% CI, 0.17 - 0.53, p = 0.0032).
Pubmed
23663500
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00481000882732476
Year of publication
2013
Drugs