Basic information of CYP27A1 :
| Official Symbol of Gene | CYP27A1 |
| Species | Homo sapiens |
| Entrez Gene ID | 1593 |
| Official Full Name | cytochrome P450 family 27 subfamily A member 1 |
| Also known as | CTX; CP27; CYP27 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000135929 MIM:606530; AllianceGenome:HGNC:2605 |
| Map Location | 2q35 |
| Variation Type | polymorphisms |
| refSNP ID | N/A |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood |
| Sample Detail | N/A |
| Detected Method | microsatellite markers |
| Disease | MS |
| Disease subtype | N/A |
| Population | Canadian |
| Sample Size | 236 sibling pairs from 187 families |
Literature information of multiple sclerosis :
| Pubmed ID | 10680811 |
| Year | 2000 |
| Title | Genetic analysis of vitamin D related genes in Canadian multiple sclerosis patients. Canadian Collaborative Study Group |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Negative |
| Result | At the 1a hydroxylase locus, three nearby microsatellite markers (D12S90, D12S355, and D12S83) were analyzed. A TDT analysis of the four most common alleles for each marker showed a slight difference in transmission for allele 10 of marker D12S355. All other alleles for D12S355 and all alleles of markers D12S85, D12S90, and D12S83 showed no deviation in transmission. We found no evidence for linkage or association of this gene with MS in the Canadian population. |
| Mechanism/Pathway | A high prevalence of vitamin D deficiency has been demonstrated in MS patients.This gene is involved in the metabolism and function of vitamin D. |
