Annotation Detail
Information
- Associated Genes
- HLA-DQA2
- Associated Variants
-
TLR1 p.Ser602Ile (p.S602I)
(
ENST00000308979.7,
ENST00000502213.6 )
HLA-DQA1 p.Phe41Ser (p.F41S) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 )
TLR1 p.Ser602Ile (p.S602I) ( ENST00000308979.7, ENST00000502213.6 )
HLA-DQA1 p.Phe41Ser (p.F41S) ( ENST00000343139.11, ENST00000374949.2, ENST00000395363.5 ) - Associated Disease
- leprosy
- Source Database
- DisGeNET
- Description
- We have conducted an association analysis of more than 1,500 individuals from different case-control and family studies, and observed consistent associations between genetic variants in both TLR1 and the HLA-DRB1/DQA1 regions with susceptibility to leprosy (TLR1 I602S, case-control P = 5.7 x 10(-8), OR = 0.31, 95% CI = 0.20-0.48, and HLA-DQA1 rs1071630, case-control P = 4.9 x 10(-14), OR = 0.43, 95% CI = 0.35-0.54).
- Pubmed
- 20617178
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs