Rs10954213

Systemic Lupus Erythematosus rs10488631 rs2004640 rs10954213 and rs729302

Japanese 277 SLE patients and 201 controls. Carriers of the rs2004640T slightly increased among SLE patients (58.8%) as compared with controls (50.2%). When data from our Japanese population were combined with previously published data from a Korean population, the T allele frequency was found to be significantly increased in SLE patients (P = 8.3 x 10(-5)). While no association was observed for the rs10954213. significant associations with 3 intron 1 SNPs (-4001, rs6953165, and rs41298401) were found. The allele frequency of rs41298401G was significantly decreased in SLE patients (13.0% versus 18.7% in controls; P = 0.017), and the allele frequency of rs6953165G, which was in absolute linkage disequilibrium with -4001A, was increased in SLE patients (8.8% versus 5.2% in controls; P = 0.034). The Caucasian risk haplotype was not present; instead, a protective haplotype carrying rs2004640G, rs41298401G, the deletion in exon 6, and rs10954213A was identified. SNP rs10954213

A variant located 64 bp upstream of the first untranslated exon (exon 1A), consisting of a 5 bp insertion/deletion CGGGG, may be the causative SNP in this region that is most responsible for increasing SLE risk, the rs# for the CGGGG insertion/deletion is rs77571059.

Of 3 IRF5 SNPs studied, the rs2280714(A) SNP - and not this one - had the strongest association (odds ratio 1.42, CI: 1.15-1.75) in Japanese SLE patients.

Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.

Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.

Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

Association of an IRF5 gene functional polymorphism with Sjogren's syndrome.

IFN-regulatory factor 5 gene variants interact with the class I MHC locus in the Swedish psoriasis population.

Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.

Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.

Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus.

Promoter insertion/deletion in the IRF5 gene is highly associated with susceptibility to systemic lupus erythematosus in distinct populations, but exerts a modest effect on gene expression in peripheral blood mononuclear cells.

Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.

[Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population].

Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.

Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.

Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.

Interferon alpha in systemic lupus erythematosus.

A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.