Basic information of STAT4 :
| Official Symbol of Gene | STAT4 |
| Species | Homo sapiens |
| Entrez Gene ID | 6775 |
| Official Full Name | signal transducer and activator of transcription 4 |
| Also known as | SLEB11 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000138378 MIM:600558; AllianceGenome:HGNC:11365 |
| Map Location | 2q32.2-q32.3 |
| Variation Type | SNP |
| refSNP ID | rs10181656 |
Sample information of multiple sclerosis:
| Detected Sample | Peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | NMOSD |
| Disease subtype | N/A |
| Population | Chinese Han ethnicity |
| Sample Size | 233 patients with established NMOSD (207 females and 26 males) and 492 healthy controls (412 females and 80 males) |
Literature information of multiple sclerosis :
| Pubmed ID | 28852993 |
| Year | 2017 |
| Title | STAT4 Polymorphisms are Associated with Neuromyelitis Optica Spectrum Disorders |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | The results of multiple test comparisons were corrected using the Benjamini and Hochberg false discovery rate (FDR–BH). After correcting for multiple test comparisons, the minor alleles of four STAT4 SNPs exhibited significant association with increased risk of NMOSD (rs7574865 T, odds ratio [OR] = 1.66, 95% confidence interval [CI] 1.32–2.08, Pcorr = 0.000; rs10181656 G, OR = 1.62, 95% CI 1.29–2.03, Pcorr = 0.000; rs10168266 T, OR = 1.59, 95% CI 1.27–2.00, Pcorr = 0.001; and rs13426947 A, OR = 1.51, 95% CI 1.21–1.90, Pcorr = 0.004). Identical results were observed in the dominant, recessive, and additive models. In contrast, the G allele of rs7601754 displayed a protective effect against NMOSD (OR = 0.53, 95% CI 0.36–0.76, Pcorr = 0.006). Our study indicates that STAT4 polymorphisms are associated with the risk of NMOSD, which provides novel insights into the underlying mechanisms of this disease |
| Result | Given that NMOSD have complex genetic backgrounds, no single gene could independently trigger the autoimmune response and be alone responsible for NMOSD pathogenesis. In addition to STAT4, multiple non-HLA genes, such as PD-1, CYP7A1, CD58, FCRL3, and CD40, have been shown to be associated with increased NMOSD risk; most of these genes have been implicated in other autoimmune diseases |
| Mechanism/Pathway | Chi-square tests and logistic regression analyses were performed with four genetic models, including allelic, additive, dominant, and recessive models, to identify associations with NMOSD |
