Annotation Detail
Information
- Associated Genes
- CCL2
- Associated Variants
-
rs301640
IL4R p.Gln576Arg (p.Q576R) ( ENST00000543915.6, ENST00000170630.6, ENST00000395762.7 )
CCL2 p.Cys35= (p.C35=) ( ENST00000225831.4, ENST00000580907.6 )
NOS3 c.3106+11G>T ( ENST00000297494.8, ENST00000461406.5 )
rs301640
IL4R p.Gln576Arg (p.Q576R) ( ENST00000170630.6, ENST00000395762.7, ENST00000543915.6 )
CCL2 p.Cys35= (p.C35=) ( ENST00000225831.4, ENST00000580907.6 )
NOS3 c.3106+11G>T ( ENST00000297494.8, ENST00000461406.5 ) - Associated Disease
- kidney failure
- Source Database
- DisGeNET
- Description
- Four polymorphisms showed association with ESRD: rs1801275 in the interleukin 4 receptor (IL4R) gene (OR: 0.66 (95%CI = 0.46-0.95); p = 0.025; overdominant model), rs4586 in chemokine (C-C motif) ligand 2 (CCL2) gene (OR: 0.70 (95%CI = 0.54-0.90); p = 0.005; additive model), rs301640 located in an intergenic binding site for signal transducer and activator of transcription 4 (STAT4) (OR: 1.82 (95%CI = 1.17-2.83); p = 0.006; additive model) and rs7830 in the nitric oxide synthase 3 (NOS3) gene (OR: 1.31 (95%CI = 1.01-1.71); p = 0.043; additive model).
- Pubmed
- 22817530
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00244297684872273
- Year of publication
- 2012
Drugs