Rs7574865

From SNPedia

rs7574865, a SNP in the third intron of the STAT4 gene, has been reported in a large study of Swedes to be associated with both rheumatoid arthritis and lupus (SLE). Among other studies, it has been confirmed in a meta-analysis of 8 studies totaling 7,381 patients and over 10,000 controls from both European and Asian populations.[PMID 20169389]

The risk allele (oriented to the dbSNP entry) is (T); the odds ratio associated the presence of a risk allele was 1.3 for rheumatoid arthritis and 1.55 for lupus (SLE). The paper states that, "Homozygosity of the risk allele, as compared with absence of the allele, was associated with a more than doubled risk for lupus and a 60% increased risk for rheumatoid arthritis." [PMID 17804842]

A study of 124 Caucasian patients with primary Sjogren's syndrome, a related autoimmune disease to RA and SLE, also found that the rs7574865(T) allele to be associated with higher risk for this condition (p=0.01).[PMID 18273036]

[PMID 18516230] associated with SLE characterized by double-stranded DNA autoantibodies (MAF = 35.1%, OR = 1.86, p<10(-19)), nephritis (MAF = 34.3%, OR = 1.80, p<10(-11)), and age at diagnosis<30 years (MAF = 33.8%, OR = 1.77, p<10(-13))

[PMID 18576330] The combined ORs for RA and SLE, respectively, were 1.27 (P = 8.4 x 10(-9)) and 1.61 (P = 2.1 x 10(-11)) for allele frequency distribution; these ORs in the Japanese were quite similar to those previously observed in the Caucasian population

[PMID 18576336] RA risk associated with rs7574865(T) allele was also found in studies of 923 Spanish, 273 Swedish, and 876 Dutch patients.

[PMID 18703106] The rs7574865(T) allele is associated with increased risk for type-1 diabetes; the odds ratio is 1.94, CI: 1.29-2.91, p = 0.0012, based on a study of Greek patients.

A study of RA patients from Crete also found that the rs7574865(T) allele represented increased risk for rheumatoid arthritis.[PMID 18625278]

[PMID 18759272] A study of 2,776 Spanish subjects found that the rs7574865(T) allele was associated with rheumatoid arthritis, Crohn's disease, ulcerative colitis, and type-1 diabetes, but not with multiple sclerosis.

[PMID 19332627] Lack of Association Between STAT4 Gene Polymorphism and Biopsy-proven Giant Cell Arteritis

GWAS snp
PMID	[PMID 18204098]
Trait	Systemic lupus erythematosus
Title	Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
Risk Allele	T
P-val	8.9999999999999995E-14
Odds Ratio	NR NR

[PMID 19479340] Association of STAT4 polymorphism with rheumatoid arthritis and systemic lupus erythematosus: a meta-analysis

[PMID 19500629] STAT4 gene polymorphism is associated with psoriasis in the genetically homogeneous population of Crete, Greece

[PMID 19565500] Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis

[PMID 19404967] Confirmation of STAT4, IL2/IL21, and CTLA4 polymorphisms in rheumatoid arthritis

[PMID 19588142] Association between the rs7574865 polymorphism of STAT4 and rheumatoid arthritis: a meta-analysis

[PMID 19644887] STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis

[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors

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

GWAS snp
PMID	[PMID 19838193]
Trait	Systemic lupus erythematosus
Title	Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus
Risk Allele	A
P-val	5E-42
Odds Ratio	1.51 [1.43-1.61]

[PMID 20039785] The Protein Tyrosine Phosphatase, Non-Receptor Type 22 R620W Polymorphism Does Not Confer Susceptibility to Psoriasis in the Genetic Homogeneous Population of Crete

[PMID 19877059] BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4

[PMID 19684152] Cigarette smoking, STAT4 and TNFRSF1B polymorphisms, and systemic lupus erythematosus in a Japanese population

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