|(C;C)||1.71x increased SLE risk|
|(C;G)||1.71x increased SLE risk|
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 18579578]
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 18579578]
[PMID 20535138] STAT4 is a confirmed genetic risk factor for SjÃ¶gren'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 19333953] 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 20454450] 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 24386384] Association of STAT4 Polymorphism with Severe Renal Insufficiency in Lupus Nephritis
[PMID 22729903] Contribution of STAT4 gene single-nucleotide polymorphism to systemic lupus erythematosus in the Polish population.