rs2280714
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.5 | 1.4x increased risk of SLE |
| (A;G) | 1.5 | 1.4x increased risk of SLE |
| (G;G) | 1 | Normal risk of SLE |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 128954671 |
| Gene | TNPO3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2280714 |
| dbSNP (classic) | rs2280714 |
| ClinGen | rs2280714 |
| ebi | rs2280714 |
| HLI | rs2280714 |
| Exac | rs2280714 |
| Gnomad | rs2280714 |
| Varsome | rs2280714 |
| LitVar | rs2280714 |
| Map | rs2280714 |
| PheGenI | rs2280714 |
| Biobank | rs2280714 |
| 1000 genomes | rs2280714 |
| hgdp | rs2280714 |
| ensembl | rs2280714 |
| geneview | rs2280714 |
| scholar | rs2280714 |
| rs2280714 | |
| pharmgkb | rs2280714 |
| gwascentral | rs2280714 |
| openSNP | rs2280714 |
| 23andMe | rs2280714 |
| SNPshot | rs2280714 |
| SNPdbe | rs2280714 |
| MSV3d | rs2280714 |
| GWAS Ctlg | rs2280714 |
| GMAF | 0.4082 |
| Max Magnitude | 1.5 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17389033
] The rs2004640(A) allele had a higher frequency in SLE cases (0.385) than controls (0.321; odds ratio (OR) = 1.32, P = 0.0003). In combined analysis, including all seven independent cohorts from the three studies so far, robust and consistent associations of the rs2004640(A) allele with SLE were observed. The estimate of risk was OR = 1.44 (CI: 1.34-1.55), with an overall P = 1.85 x 10(-23) for the rs2004640(A) allele. The haplotype (rs2004640T-rs2280714A) involved in both the alternative splice donor site and the elevated expression of IRF5 also had a highly significant association with SLE (pooled, P = 2.11 x 10(-16)). Our results indicate that the genetic effect on the risk of SLE mediated by IRF5 variants can be generally accepted in both white and Asian populations.
[PMID 19228650] A meta-analysis comprising 5 case-control studies, totaling 6,582 rheumatoid arthritis cases and 5,375 controls, concluded that several IRF5 gene SNPs were indeed (still) significantly associated with the disease. The rs2280714(A) allele was associated with a slight protective effect (odds ratio 0.9, CI: 0.87-0.99, p = 0.029).
[PMID 19479858] Of 3 IRF5 SNPs studied, the rs2280714(A) allele had the strongest association (odds ratio 1.42, CI: 1.15-1.75) in Japanese SLE patients.
[PMID 19816589] Lack of association of two polymorphisms of IRF5 with Behcet's disease
[PMID 19854706] Association of IRF5 polymorphisms with activation of the interferon alpha pathway
[PMID 21239750] Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis
[PMID 15657875] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
[PMID 17133578] Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.
[PMID 17189288] Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.
[PMID 17412832] Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
[PMID 18050197] Association of an IRF5 gene functional polymorphism with Sjogren's syndrome.
[PMID 18200047] IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.
[PMID 18285424] Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.
[PMID 18668568] Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.
[PMID 18846218] Evolutionary signatures of common human cis-regulatory haplotypes.
[PMID 19109131] Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
[PMID 20479942] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
[PMID 21834935] A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.
[PMID 21898142] Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children.
[PMID 23073787] Associations between interferon regulatory factor 5 polymorphisms and rheumatoid arthritis: a meta-analysis
[PMID 23288367] Interferon regulatory factor 5 polymorphisms in sarcoidosis.
[PMID 25036352] Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis
