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Basic information of VDR :

Official Symbol of Gene VDR
Species Homo sapiens
Entrez Gene ID 7421
Official Full Name vitamin D receptor
Also known as NR1I1; PPP1R163
Gene Type protein coding
dbXrefs Ensembl:ENSG00000111424 MIM:601769; AllianceGenome:HGNC:12679
Map Location 12q13.11
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 VDR locus, TDT analysis of the ApaI and TaqI polymorphisms did not show preferential transmission of any allele to affected offspring .
Mechanism/Pathway A high prevalence of vitamin D deficiency has been demonstrated in MS patients.VDR is involved in the metabolism and function of vitamin D.