{{Rsnum
|rsid=2280714
|Gene=TNPO3
|Chromosome=7
|position=128954671
|Orientation=minus
|GMAF=0.4082
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=TNPO3
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 35.4 | 52.2 | 12.4
| HCB | 26.3 | 58.4 | 15.3
| JPT | 29.2 | 44.2 | 26.5
| YRI | 36.1 | 45.6 | 18.4
| ASW | 35.1 | 57.9 | 7.0
| CHB | 26.3 | 58.4 | 15.3
| CHD | 37.6 | 44.0 | 18.3
| GIH | 46.0 | 41.0 | 13.0
| LWK | 34.9 | 45.9 | 19.3
| MEX | 32.8 | 51.7 | 15.5
| MKK | 32.7 | 50.6 | 16.7
| TSI | 51.0 | 39.2 | 9.8
| HapMapRevision=28
}}{{PMID|17389033|OA=1
}} 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-[[rs2280714]]A) 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.

{{ neighbor
| rsid = 10488631
| distance = 542
}}

{{omim
|desc=SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10; SLEB10
|id=612251
|rsnum=2280714
}}

{{omim
|desc=INTERFERON REGULATORY FACTOR 5; IRF5
|id=607218
|rsnum=2280714
}}
{{PMID Auto
|PMID=19816589
|Title=Lack of association of two polymorphisms of IRF5 with Behcet's disease
|OA=1
}}

{{PMID Auto
|PMID=19854706
|Title=Association of IRF5 polymorphisms with activation of the interferon alpha pathway
|OA=1
}}
{{PMID Auto
|PMID=21239750
|Title=Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis
}}

{{PMID Auto
|PMID=15657875
|Title=Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
|OA=1
}}

{{PMID Auto
|PMID=17133578
|Title=Analysis of IRF5 gene functional polymorphisms in rheumatoid arthritis.
}}

{{PMID Auto
|PMID=17189288
|Title=Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.
|OA=1
}}

{{PMID Auto
|PMID=17412832
|Title=Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.
|OA=1
}}

{{PMID Auto
|PMID=18050197
|Title=Association of an IRF5 gene functional polymorphism with Sjogren's syndrome.
|OA=1
}}

{{PMID Auto
|PMID=18200047
|Title=IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.
}}

{{PMID Auto
|PMID=18285424
|Title=Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.
|OA=1
}}

{{PMID Auto
|PMID=18668568
|Title=Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.
|OA=1
}}

{{PMID Auto
|PMID=18846218
|Title=Evolutionary signatures of common human cis-regulatory haplotypes.
|OA=1
}}

{{PMID Auto
|PMID=19109131
|Title=Cutting edge: autoimmune disease risk variant of STAT4 confers increased sensitivity to IFN-alpha in lupus patients in vivo.
|OA=1
}}

{{PMID Auto
|PMID=20479942
|Title=Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.
|OA=1
}}

{{PMID Auto
|PMID=21834935
|Title=A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.
}}

{{PMID Auto
|PMID=21898142
|Title=Association of IRF5 polymorphisms with susceptibility to hemophagocytic lymphohistiocytosis in children.
}}

{{PMID Auto
|PMID=23073787
|Title=Associations between interferon regulatory factor 5 polymorphisms and rheumatoid arthritis: a meta-analysis
}}

{{PMID Auto
|PMID=23288367
|Title=Interferon regulatory factor 5 polymorphisms in sarcoidosis.
}}

{{PMID Auto
|PMID=25036352
|Title=Association between IRF5 polymorphisms and autoimmune diseases: a meta-analysis
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}