rs729302

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

128928906

is a	snp
is	mentioned by
dbSNP	rs729302
dbSNP (classic)	rs729302
ClinGen	rs729302
ebi	rs729302
HLI	rs729302
Exac	rs729302
Gnomad	rs729302
Varsome	rs729302
LitVar	rs729302
Map	rs729302
PheGenI	rs729302
Biobank	rs729302
1000 genomes	rs729302
hgdp	rs729302
ensembl	rs729302
geneview	rs729302
scholar	rs729302
google	rs729302
pharmgkb	rs729302
gwascentral	rs729302
openSNP	rs729302
23andMe	rs729302
SNPshot	rs729302
SNPdbe	rs729302
MSV3d	rs729302
GWAS Ctlg	rs729302

GMAF

0.2723

Max Magnitude

1.5

?

(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 15657875 ] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.

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

[PMID 17412832 ] 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 18285424 ] 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 20169177 ] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.

[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

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 23273568 ]
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 25337792 ] Genetic association study of TNFAIP3, IFIH1, IRF5 polymorphisms with polymyositis/dermatomyositis in Chinese Han population