Basic information of CNTF :
| Official Symbol of Gene | CNTF |
| Species | Homo sapiens |
| Entrez Gene ID | 1270 |
| Official Full Name | ciliary neurotrophic factor |
| Also known as | HCNTF |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000242689 MIM:118945; AllianceGenome:HGNC:2169 |
| Map Location | 11q12.1 |
| Variation Type | SNP |
| refSNP ID | the G-to-A CNTF null mutation at position -6 of the second exon(CNTF -/-) |
Sample information of multiple sclerosis:
| Detected Sample | blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | Germany |
| Sample Size | 288 patients |
Literature information of multiple sclerosis :
| Pubmed ID | 11890844 |
| Year | 2002 |
| Title | Association of a null mutation in the CNTF gene with early onset of multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | The homozygous CNTF null mutation (CNTF -/-) was found in 7 of the 288 randomly selected patients with MS. Patients with the CNTF -/- genotype had a significantly earlier onset of disease with predominant motor symptoms.CNTF contributes to time and site of early clinical manifestation. The frequency of patients with MS with a homozygous CNTF null mutation in this population was not higher than in control groups, indicating that the CNTF null mutation is not a risk factor for development of MS. |
| Mechanism/Pathway | Immune-mediated demyelination and axonal damage lead to early functional impairment in multiple sclerosis (MS). Ciliary neurotrophic factor (CNTF) is a potent survival factor for neurons and oligodendrocytes and may be relevant in reducing tissue destruction during inflammatory attacks. |
