Basic information of FOXP3 :
| Official Symbol of Gene | FOXP3 |
| Species | Homo sapiens |
| Entrez Gene ID | 50943 |
| Official Full Name | forkhead box P3 |
| Also known as | JM2; AIID; IPEX; PIDX; XPID; DIETER |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000049768 MIM:300292; AllianceGenome:HGNC:6106 |
| Map Location | Xp11.23 |
| Variation Type | SNP |
| refSNP ID | rs3761547, rs3761548 |
Sample information of multiple sclerosis:
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | real-time PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 106 MS patients / 113 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 33806248 |
| Year | 2021 |
| Title | FOXP3 and GATA3 Polymorphisms, Vitamin D3 and Multiple Sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | No statistically significant genotypic and allelic differences were found in the distribution of FOXP3 rs3761547 and rs3761548 in the MS patients, compared with controls. |
| Mechanism/Pathway | Among these, the X-Linked Forkhead Box P3 (FoxP3) has a crucial role in Tregs development and stability, as shown by in vivo and in vitro studies.In particular, FOXP3-deficient Treg cells have been shown to reduce expression of Treg cell signature genes, such as TGF-β, IL-10, and CTLA4, which are critical for tolerance and immunosuppression, while gained the expression of cytokine genes, such as IFN-γ, TNF-α, and IL-17, which stimulate the immune response.Many polymorphisms in the gene codifying for Foxp3 have been associated with reduced levels of Foxp3 and impaired suppressive function of Treg cells, resulting in the development of autoimmune diseases. |
