Annotation Detail
Information
- Associated Genes
- MBP
- Associated Variants
-
VDR p.Ile352= (p.I352=)
(
ENST00000229022.9,
ENST00000550325.5,
ENST00000549336.6,
ENST00000395324.6 )
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 ) - Associated Disease
- multiple sclerosis
- Source Database
- DisGeNET
- Description
- Analyses performed on HLA-DRB1*15-positive MS patients and HC alone confirmed the protective role of rs731236 TT VDR genotype (p(y)=0.004; OR: 0.53; 95% CI: 0.33-0.83); notably, FACS, PCR, and confocal microscopy analyses showed that rs731236 TT genotype is associated with an augmented VDR expression in MBP-stimulated PBMC from patients.
- Pubmed
- 21664963
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0618599165290991
- Year of publication
- 2011
Drugs