Annotation Detail
Information
- Associated Genes
- CTLA4
- Associated Variants
-
CTLA4 MUTATION
CTLA4 MUTATION
rs733618 ( ENST00000696479.1 )
rs733618 ( ENST00000696479.1 ) - Associated Disease
- Lupus Erythematosus, Systemic
- Source Database
- DisGeNET
- Description
- Overall, there was significant association between the 1722T/C polymorphism and overall SLE risks (OR = 0.78, 95 % CI = 0.63-0.97, P = 0.04 for GG+GA vs. AA, OR = 0.87, 95 % CI = 0.76-0.99, P = 0.04 for G vs. A) in Asian population.In summary, this meta-analysis demonstrates that the CTLA-4 promoter +49A/G and promoter -1722C/T polymorphism may confer susceptibility to SLE, especially in Asian-derived population.
- Pubmed
- 23922195
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0677907067164507
- Year of publication
- 2012
Drugs