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rs10954213

From SNPedia

Orientationplus
Stabilizedplus
Make rs10954213(A;A)
Make rs10954213(A;G)
Make rs10954213(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position128949373
GeneIRF5
is asnp
is mentioned by
dbSNPrs10954213
ebirs10954213
HLIrs10954213
Exacrs10954213
Varsomers10954213
Maprs10954213
PheGenIrs10954213
hapmaprs10954213
1000 genomesrs10954213
hgdprs10954213
ensemblrs10954213
gopubmedrs10954213
geneviewrs10954213
scholarrs10954213
googlers10954213
pharmgkbrs10954213
gwascentralrs10954213
openSNPrs10954213
23andMers10954213
23andMe allrs10954213
SNP Nexus

SNPshotrs10954213
SNPdbers10954213
MSV3drs10954213
GWAS Ctlgrs10954213
GMAF0.4683
Max Magnitude
[PMID 18063667] Systemic Lupus Erythematosus rs10488631 rs2004640 rs10954213 and rs729302

[PMID 18311811] 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

[PMID 18063667] 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.

[PMID 19479858] 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.

OMIM607218
DescINTERFERON REGULATORY FACTOR 5; IRF5
Variant
Relatedalso

[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome


[PMID 19772658OA-icon.png] Exon expression in lymphoblastoid cell lines from subjects with schizophrenia before and after glucose deprivation


[PMID 20691091OA-icon.png] Survival dimensionality reduction (SDR): development and clinical application of an innovative approach to detect epistasis in presence of right-censored data

[PMID 20980283] The interferon regulatory factor 5 gene confers susceptibility to rheumatoid arthritis and influences its erosive phenotype

OMIM607218
Desc
Variant0003
Relatedalso
OMIM612251
Desc
Variant
Relatedalso
[PMID 21627826OA-icon.png] Cis-regulation of IRF5 expression is unable to fully account for Systemic Lupus Erythematosus association: analysis from multiple experiments with lymphoblastoid cell lines

[PMID 17189288OA-icon.png] Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation.

[PMID 17393452] Structural insertion/deletion variation in IRF5 is associated with a risk haplotype and defines the precise IRF5 isoforms expressed in systemic lupus erythematosus.

[PMID 17412832OA-icon.png] Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.

[PMID 18050197OA-icon.png] 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 18285424OA-icon.png] Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations.

[PMID 18668568OA-icon.png] Association of the IRF5 risk haplotype with high serum interferon-alpha activity in systemic lupus erythematosus patients.

[PMID 19567624] Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.

[PMID 19758313] Tyrosine kinase 2 and interferon regulatory factor 5 polymorphisms are associated with discoid and subacute cutaneous lupus erythematosus.

[PMID 20080916] 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.

[PMID 20112383OA-icon.png] Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.

[PMID 20137629] [Relationship between polymorphism sites of IRF5, TLR-9 and SLE patients in Shandong Han population].

[PMID 20231204] Phenotype-haplotype correlation of IRF5 in systemic sclerosis: role of 2 haplotypes in disease severity.

[PMID 20479942OA-icon.png] Genetic risk factors in lupus nephritis and IgA nephropathy--no support of an overlap.

[PMID 20639879OA-icon.png] Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis.

[PMID 20652065OA-icon.png] Interferon alpha in systemic lupus erythematosus.

[PMID 21834935] A meta-analysis of the association of IRF5 polymorphism with systemic lupus erythematosus.


[PMID 23392701] Association of rs10954213 polymorphisms and haplotype diversity in interferon regulatory factor 5 with systemic lupus erythematosus: A meta-analysis


[PMID 23288367] Interferon regulatory factor 5 polymorphisms in sarcoidosis.


[PMID 24116155OA-icon.png] Two functional variants of IRF5 influence the development of macular edema in patients with non-anterior uveitis


[PMID 25564941] Association between genetic polymorphisms in Interferon Regulatory Factor 5 (IRF5) gene and Malaysian patients with Crohn's disease


ClinVar
Risk rs10954213(A;A)
Alt rs10954213(A;A)
Reference rs10954213(G;G)
Significance Other
Disease Systemic lupus erythematosus 10
Variation info
Gene IRF5
CLNDBN Systemic lupus erythematosus 10
Reversed 0
HGVS NC_000007.13:g.128589427G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003566.2,



[PMID 26294277] Genetic association and interaction between the IRF5 and TYK2 genes and systemic lupus erythematosus in the Han Chinese population