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rs729302

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1 Normal risk of developing rheumatoid arthritis
(A;C) 1.5 0.89x decreased risk of developing rheumatoid arthritis
(C;C) 1.5 0.89x decreased risk of developing rheumatoid arthritis
ReferenceGRCh38 38.1/141
Chromosome7
Position128928906
is asnp
is mentioned by
dbSNPrs729302
ebirs729302
HLIrs729302
Exacrs729302
Varsomers729302
Maprs729302
PheGenIrs729302
hapmaprs729302
1000 genomesrs729302
hgdprs729302
ensemblrs729302
gopubmedrs729302
geneviewrs729302
scholarrs729302
googlers729302
pharmgkbrs729302
gwascentralrs729302
openSNPrs729302
23andMers729302
23andMe allrs729302
SNP Nexus

SNPshotrs729302
SNPdbers729302
MSV3drs729302
GWAS Ctlgrs729302
GMAF0.2723
Max Magnitude1.5
? (A;A) (A;C) (C;C) 28
[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, however it lacks an rs# (i.e. it isn't registered in dbSNP).

[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 rs729302(C) allele was associated with a slight protective effect (odds ratio 0.89, CI: 0.8-0.977, p = 0.015).


[PMID 21239750] Association of IRF5 Polymorphisms with Susceptibility to Macrophage Activation Syndrome in Patients with Juvenile Idiopathic Arthritis


[PMID 15657875OA-icon.png] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.


[PMID 17389033OA-icon.png] Replication of the genetic effects of IFN regulatory factor 5 (IRF5) on systemic lupus erythematosus in a Korean population.


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


[PMID 17568788] Opposed independent effects and epistasis in the complex association of IRF5 to SLE.


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


[PMID 18408250] A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.


[PMID 20169177OA-icon.png] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.


[PMID 20479942OA-icon.png] 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

GWAS snp
PMID [PMID 23053960]
Trait Systemic lupus erythematosus
Title Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
Risk Allele A
P-val 4E-8
Odds Ratio 1.29 [1.41-1.18]
GWAS snp
PMID [PMID 23273568OA-icon.png]
Trait Systemic lupus erythematosus
Title Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
Risk Allele A
P-val 1E-9
Odds Ratio 1.47


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


[PMID 25337792OA-icon.png] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population