Basic information of HLA-C :
| Official Symbol of Gene | HLA-C |
| Species | Homo sapiens |
| Entrez Gene ID | 4933 |
| Official Full Name | major histocompatibility complex, class I, C |
| Also known as | MHC; HLAC; HLC-C; D6S204; PSORS1; HLA-JY3 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000204525 MIM:142840; AllianceGenome:HGNC:4933 |
| Map Location | 6p21.33 |
| Variation Type | SNP |
| refSNP ID | r6929950 |
Sample information of multiple sclerosis:
| Detected Sample | venous blood |
| Sample Detail | N/A |
| Detected Method | Illumina Infinium custom genotyping array |
| Disease | MS |
| Disease subtype | N/A |
| Population | Hispanic population |
| Sample Size | 1298 MS cases and 1137 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 36548255 |
| Year | 2022 |
| Title | Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | We identified three novel protective variants for MS across the extended MHC, one in the Hispanic sample (rs6929950, an intronic variant within OR5V1) and two in the African American sample (classical HLA-B*53:01 and rs760145, an intronic variant within HLA-F-AS1) |
| Mechanism/Pathway | MHC is vital to proper immune system function due to its central role in the initiation of adaptive immune response |
