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 | rs3761548 |
Sample information of multiple sclerosis:
| Detected Sample | whole blood |
| Sample Detail | N/A |
| Detected Method | PCR-RFLP |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Iranian |
| Sample Size | 410 MS patients/446 healthy controls |
Literature information of multiple sclerosis :
| Pubmed ID | 27792007 |
| Year | 2016 |
| Title | Single nucleotide polymorphisms in the FOXP3 gene are associated with increased risk of relapsing-remitting multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | The A allele was significantly more frequent in MS patients than controls.The C allele for rs3761548 was significantly higher in controls than patients.The association between recessive model of rs3761548 with MS remained significant the results are summarized in. According to the co-dominant model the A/A and C/C homozygote genotype frequencies of rs3761548 were significantly different between patients and controls and they respectively conferred susceptibility and protection toward MS in the study group. |
| Mechanism/Pathway | The commitment stage of Treg cell differentiation, the continued gene expression of FOXP3 gene in CD4+CD25+T lymphocytes is needed as a Treg cell lineage specification factor to direct developing thymocytes towards the Treg cell lineage, Taken together, these studies suggest that dysfunction and aberrant expression of the FOXP3 gene underlie different immune diseases. |
