Basic information of CYP27B1 :
| Official Symbol of Gene | CYP27B1 |
| Species | Homo sapiens |
| Entrez Gene ID | 2606 |
| Official Full Name | cytochrome P450 family 27 subfamily B member 1 |
| Also known as | VDR; CP2B; CYP1; PDDR; VDD1; VDDR; VDDRI; CYP27B; P450c1; CYP1alpha |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000111012 MIM:609506; AllianceGenome:HGNC:2606 |
| Map Location | 12q14.1 |
| Variation Type | SNP |
| refSNP ID | rs10877012 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | TaqManã€MALDI-TOF |
| Disease | MS |
| Disease subtype | N/A |
| Population | Swedish population |
| Sample Size | 2158 MS cases and 1759 controls |
Literature information of multiple sclerosis :
| Pubmed ID | 20648053 |
| Year | 2010 |
| Title | Confirmation of association between multiple sclerosis and CYP27B1 |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | Three SNPs genotyped in the Swedish cohorts were associated with MS, rs4646536, rs10877012 and rs10877015 |
| Mechanism/Pathway | CYP27B1 is the most likely MS susceptibility candidate, given its importance in vitamin D3 activation and the important role of vitamin D3 in immunological functions |
