Basic information of CYP27B1 :
| Official Symbol of Gene | CYP27B1 |
| Species | Homo sapiens |
| Entrez Gene ID | 1594 |
| 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 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | NA |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | RRMS/PPMS/SPMS/CIS |
| Population | Germany, North Rhine-Westphalia |
| Sample Size | 141 MS |
Literature information of multiple sclerosis :
| Pubmed ID | 25620546 |
| Year | 2014 |
| Title | Multiple sclerosis risk loci correlate with cervical cord atrophy and may explain the course of disability |
Results of multiple sclerosis :
| Expression | up-regulation |
| Risk type | Phenotypic risk |
| Result | For nine loci—BATF, CYP27B1, IL12B, NFKB1,IL7, PLEK, EVI5, TAGAP and nrs669607—patients revealed significantly higher degree of atrophy; TYK2, RGS1 and CLEC16A revealed inverse effects. The weighted genetic risk score over the twelve loci showed significant correlation with MUCCA. |
| Mechanism/Pathway | We genotyped 141 MS patients for 58 variations re-ported to reach significance in GW AS. Expanded disability status scale (EDSS) and disease duration (DD) are available from regular clinical examinations. |
