Home Details
| Official Symbol of Gene | TNF |
| Species | Homo sapiens |
| Entrez Gene ID | 7124 |
| Official Full Name | tumor necrosis factor |
| Also known as | DIF; TNFA; TNFSF2; TNLG1F; TNF-alpha |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000232810 MIM:191160; AllianceGenome:HGNC:11892 |
| Map Location | 6p21.33 |
| Variation Type | Allele |
| refSNP ID | NA |
| Detected Sample | CSF/peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS/PPMS/SPMS |
| Population | N/A |
| Sample Size | 50 MS/22Health |
| Pubmed ID | 8887999 |
| Year | 1996 |
| Title | Gene polymorphism at position -308 of the tumor-necrosis-factor- (TNF-c ) in Multiple Sclerosis and it's influence on the regulation of TNF-c production |
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | Considering the association of different TNF-~ alleles with diverse autoimmune diseases we sequenced the TNF-u promotor region (-674 to +201) of 23 patients with relapsing/remitting MS, of 27 patients with chronic progressive MS (21 patients had primary progressive course and six patients had a secondary progressive course) and of 22 healthy controls, who had no history of MS in their families. In three of 21 patients (14%) with primary chronic progressive MS a homozygous point-mutation at position -308 could be demonstrated where guanine (G) was substituted by adenosine (A). This mutation could neither be detected in patients with relapsing/ remitting MS nor in healthy controls. However, 40% of the patients with relapsing/remitting MS and 43% of the primary chronic progressive MS patients were heterozygous at position -308 for G/A, whereas only 32% of healthy controls showed this heterogeneity. |
| Mechanism/Pathway | Tumor-necrosis-factor-~ (TNF-c0 is a major mediator of the inflammatory immune response and may play an important role in the pathogenesis and progression of Multiple Sclerosis (MS). |

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