Annotation Detail
Information
- Associated Genes
- NFKBIA
- Associated Variants
-
NC_000014.9:g.35405064G>A
NC_000014.9:g.35405593G>A
NC_000014.9:g.35405648T>C
NC_000014.9:g.35405064G>A
NC_000014.9:g.35405593G>A
NC_000014.9:g.35405648T>C - Associated Disease
- Respiratory Syncytial Virus Infections
- Source Database
- DisGeNET
- Description
- In this study, we quantified the functional impact of NFKBIA promoter polymorphisms (rs3138053, rs2233406, and rs2233409) on promoter-driven protein expression, allele-specific and total NFKBIA mRNA expression, IκBα protein expression, and TLR responsiveness; mapped innate immune regulatory networks active during respiratory syncytial virus infection, asthma, and bronchopulmonary dysplasia; and genotyped and analyzed independent cohorts of children with respiratory syncytial virus infection, asthma, and bronchopulmonary dysplasia.
- Pubmed
- 23487427
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00263847385068233
- Year of publication
- 2013
Drugs