Basic information of HFE :
| Official Symbol of Gene | HFE |
| Species | Homo sapiens |
| Entrez Gene ID | 3077 |
| Official Full Name | homeostatic iron regulator |
| Also known as | HH; HFE1; HLA-H; MVCD7; TFQTL2 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000010704 MIM:613609; AllianceGenome:HGNC:4886 |
| Map Location | 6p22.2 |
| Variation Type | polymorphisms |
| refSNP ID | C282Y |
Sample information of multiple sclerosis:
| Detected Sample | N/A |
| Sample Detail | N/A |
| Detected Method | meta-analysis |
| Disease | MS |
| Disease subtype | N/A |
| Population | N/A |
| Sample Size | 2271 patients / 2180 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 34987796 |
| Year | 2022 |
| Title | Lack of association between C282Y and H63D polymorphisms in the hemochromatosis gene and risk of multiple sclerosis: A meta-analysis |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | The results of the meta-analysis did not show a significant association between HFE polymorphisms and susceptibility to MS in any of the genetic comparison models . |
| Mechanism/Pathway | A growing body of evidence supports a possible role of iron metabolism in a number of diseases with a neurodegenerative component, including MS.A recent study in MS patients found an association between the serum iron concentration and evidence of increased iron deposition in deep gray matter subcortical structures.The human hemochromatosis gene (HFE) is an important regulator of cellular iron homeostasis and has the highest prevalence of polymorphisms amongst the iron regulatory genes known to alter brain iron levels and structure.In HFE, the single nucleotide polymorphisms C282Y and H63D can result in phenotypes with altered iron parameters.Homozygosity or compound heterozygosity for the C282Y and H63D variants can lead to iron overload and the disorder known as hereditary hemochromatosis. |
