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rs7582694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 1.71x increased SLE risk
(C;G) 1.71x increased SLE risk
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome2
Position191105394
GeneSTAT4
is asnp
is mentioned by
dbSNPrs7582694
dbSNP (old)rs7582694
ClinGenrs7582694
ebirs7582694
HLIrs7582694
Exacrs7582694
Varsomers7582694
Maprs7582694
PheGenIrs7582694
Biobankrs7582694
1000 genomesrs7582694
hgdprs7582694
ensemblrs7582694
gopubmedrs7582694
geneviewrs7582694
scholarrs7582694
googlers7582694
pharmgkbrs7582694
gwascentralrs7582694
openSNPrs7582694
23andMers7582694
23andMe allrs7582694
SNP Nexus

SNPshotrs7582694
SNPdbers7582694
MSV3drs7582694
GWAS Ctlgrs7582694
GMAF0.2668
Max Magnitude
? (C;C) (C;G) (G;G) 28

Several tightly linked SNPs in the STAT4 gene have been linked to risk for risk haplotype for systemic lupus erythematosus (SLE). The strongest association is found for either of two perfectly linked SNP alleles, rs10181656(G) and rs7582694(C), both yielding an odds ratio of 1.71 in this study of ~700 Swedish SLE patients.[PMID 18579578OA-icon.png]

The risk for SLE was also calculated to increase as a function of the total number of risk alleles for this SNP plus 2 others in the IRF5 gene, rs10488631 and a CGGGG indel, rs77571059. Compared to individuals with 0 or 1 risk alleles, the risk for SLE increased 1.82-fold for each additional risk allele from this group. The odds ratio for SLE is 2.08 (CI: 1.53-2.83) for carriers of 2 risk alleles, and goes up to 13.0 (CI: 3.78-44.3) for carriers of 5 or 6 risk alleles (compared to those with 0 or 1). [PMID 18579578OA-icon.png]

Neighborrs10181656
Distance241
[PMID 20535138] STAT4 is a confirmed genetic risk factor for Sjögren's syndrome and could be involved in type 1 interferon pathway signaling

[PMID 19092842] Additive effects of the major risk alleles of IRF5 and STAT4 in primary Sjogren's syndrome.

[PMID 19333953OA-icon.png] High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.

[PMID 19717398] Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort.

[PMID 20454450OA-icon.png] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.

[PMID 21167895] Association of genetic variations in the STAT4 and IRF7/KIAA1542 regions with systemic lupus erythematosus in a Northern Han Chinese population.

[PMID 21258797] A single-nucleotide polymorphism of the STAT4 gene is associated with systemic lupus erythematosus (SLE) in female Chinese population.


[PMID 24386384OA-icon.png] Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis


[PMID 22729903OA-icon.png] Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population.