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rs10181656

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;G) 1.7x increased SLE risk
(G;G) 1.7x increased SLE risk
ReferenceGRCh38 38.1/141
Chromosome2
Position191105153
GeneSTAT4
is asnp
is mentioned by
dbSNPrs10181656
ebirs10181656
HLIrs10181656
Exacrs10181656
Varsomers10181656
Maprs10181656
PheGenIrs10181656
hapmaprs10181656
1000 genomesrs10181656
hgdprs10181656
ensemblrs10181656
gopubmedrs10181656
geneviewrs10181656
scholarrs10181656
googlers10181656
pharmgkbrs10181656
gwascentralrs10181656
openSNPrs10181656
23andMers10181656
23andMe allrs10181656
SNP Nexus

SNPshotrs10181656
SNPdbers10181656
MSV3drs10181656
GWAS Ctlgrs10181656
GMAF0.253
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. 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]

Neighborrs7582694
Distance241
OMIM180300
DescRHEUMATOID ARTHRITIS; RA
Variant
Relatedalso
OMIM600558
DescSIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 4; STAT4
Variant
Relatedalso

[PMID 19737838] A haplotype in STAT4 gene associated with rheumatoid arthritis in Caucasians is not associated in the Han Chinese population, but with the presence of rheumatoid factor

[PMID 19762360] A STAT4 risk allele is associated with ischemic cerebrovascular events and antiphospholipid antibodies in Systemic Lupus Erythematosus


[PMID 20176035] Association of signal transducer and activator of transcription 4 genetic variants with extra-intestinal manifestations in inflammatory bowel disease


[PMID 21683716] Signal transducer and activator of transcription 4 gene polymorphisms associated with rheumatoid arthritis in Northwestern Chinese Han population


[PMID 22328738OA-icon.png] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort

[PMID 17932559OA-icon.png] Association of STAT4 with rheumatoid arthritis in the Korean population.

[PMID 18434327OA-icon.png] Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility.

[PMID 18516230OA-icon.png] Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus.

[PMID 19120275] STAT4 polymorphism is associated with early-onset type 1 diabetes, but not with late-onset type 1 diabetes.

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

[PMID 19674979OA-icon.png] Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis.

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

[PMID 20444755OA-icon.png] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.

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

[PMID 22569826] Abnormal Genetic and Epigenetic Changes in Signal Transducer and Activator of Transcription 4 in the Pathogenesis of Inflammatory Bowel Diseases.


[PMID 22753649] Variants within STAT genes reveal association with anticitrullinated protein antibody-negative rheumatoid arthritis in 2 European populations.


[PMID 27440135] Investigation of the genetic overlap between rheumatoid arthritis and psoriatic arthritis in a Greek population.