Basic information of HLA-G :
| Official Symbol of Gene | HLA-G |
| Species | Homo sapiens |
| Entrez Gene ID | 3135 |
| Official Full Name | major histocompatibility complex, class I, G |
| Also known as | MHC-G |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000204632 MIM:142871; AllianceGenome:HGNC:4964 |
| Map Location | 6p22.1 |
| Variation Type | Deletion |
| refSNP ID | 14bp |
Sample information of multiple sclerosis:
| Detected Sample | EDTA blood |
| Sample Detail | N/A |
| Detected Method | Real-Time PCR |
| Disease | MS |
| Disease subtype | RRMS |
| Population | Italian |
| Sample Size | 27 MRI active MS / 42 MRI inactive MS |
Literature information of multiple sclerosis :
| Pubmed ID | 22922127 |
| Year | 2012 |
| Title | Role of HLA-G 14bp deletion/insertion and +3142C>G polymorphisms in the production of sHLA-G molecules in relapsing-remitting multiple sclerosis |
Results of multiple sclerosis :
| Risk Type | Phenotypic risk |
| Main Result | Positive |
| Result | In particular,there was a significant difference among the distinct combined HLA-G genotypes for serum sHLA-G concentrations in both MRI inactive and active RR-MS patientsas well as for CSF sHLA-G values in RR-MS patients with MRI inactive and active disease.The highest serum and CSF sHLA-G levels predominated in MRI inactive and active RR-MS patients with C/C,DEL/DEL genotype, who can be judged as the "true" high HLA-G producers.In contrast, the lowest serum and CSF sHLA-G titers prevailed in MRI inactive and active RR-MS patients with G/G,INS/INS who can be accepted as the "true" low sHLA-G producers. |
| Mechanism/Pathway | A growing body of evidence has indicated a possible involvement of HLA (Human Leukocyte Antigen)-G antigens in MS where this molecule seems to exhibit antinflammatory properties.HLA-G is characterized by tolerogenic functions, inducing apoptosis of activated CD8+ T cells , acting on T regulatory cells , modulating the activity of natural killer cells and of dendritic cells and blocking allo-cytotoxic T lymphocyte response.These immuno-regulatory functions are mediated by the interaction of HLA-G molecules with specific inhibitory receptors.HLA-G is currently believed to play a tolerogenic role in the regulation of MS autoimmunity. |
