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Basic information of TNF :

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

Sample information of multiple sclerosis:

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

Literature information of multiple sclerosis :

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

Results of multiple sclerosis :

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).