|(C;G)||1.7||1.7x increased SLE risk|
|(G;G)||2||1.7x increased SLE risk|
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 18579578][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 22328738] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort
[PMID 17932559] Association of STAT4 with rheumatoid arthritis in the Korean population.
[PMID 18434327] 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 18516230] 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 19333953] High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups.
[PMID 19674979] 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 20444755] Investigation of rheumatoid arthritis susceptibility genes identifies association of AFF3 and CD226 variants with response to anti-tumour necrosis factor treatment.
[PMID 20454450] Evidence for STAT4 as a common autoimmune gene: rs7574865 is associated with colonic Crohn's disease and early disease onset.
[PMID 20479942] 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.
[PMID 28852993] STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders.