Basic information of SERPINA1 :
| Official Symbol of Gene | SERPINA1 |
| Species | Homo sapiens |
| Entrez Gene ID | 5265 |
| Official Full Name | serpin family A member 1 |
| Also known as | PI; A1A; AAT; PI1; A1AT; nNIF; PRO2275; alpha1AT |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000197249 MIM:107400; AllianceGenome:HGNC:8941 |
| Map Location | 14q32.13 |
| Variation Type | allele |
| refSNP ID | M3 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | N/A |
| Population | mostly of European origin |
| Sample Size | 178 MS / 2897 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 3878126 |
| Year | 1985 |
| Title | Alpha-1 antitrypsin phenotypes in demyelinating disease: an association between demyelinating disease and the allele PiM3 |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | There was an increase over controls in the number of patients with phenotypes containing M3, and the gene frequency of M3 is significantly increased over controls.The proportion of patients with the M3 gene is significantly higher than in the control population. |
| Mechanism/Pathway | Alpha-1 Antitrypsin, the major circulating protease inhibitor, has more than thirty alleles. In addition to its role as a protease inhibitor, alpha-1 antitrypsin may regulate the immune response. As there is evidence that both the inflammatory polyneuropathies and multiple sclerosis have an immune basis, and that genetic factors influence susceptibility. |
