Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR c.1024+283G>A
(
ENST00000395324.6,
ENST00000549336.6,
ENST00000550325.5,
ENST00000229022.9 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Three hundred and thirty-seven patients with SLE and 239 healthy controls were genotyped for the VDR gene BsmI polymorphism (rs1544410) by polymerase chain reaction and restriction fragment length polymorphism analysis in this study, after which the relationship between BsmI polymorphisms and the mRNA expression of VDR, as well as clinical manifestations in patients with SLE, was evaluated.
- Pubmed
- 22004974
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0184455727363864
- Year of publication
- 2012
Drugs