Have questions? Visit https://www.reddit.com/r/SNPedia

CYP27B1

From SNPedia

is agene
is mentioned by
Full namecytochrome P450, family 27, subfamily B, polypeptide 1
Other namesVDR
EntrezGene1594
PheGenI1594
VariationViewer1594
ClinVarCYP27B1
GeneCardsCYP27B1
dbSNP1594
SADR1594
HugeNav1594
wikipediaCYP27B1
googleCYP27B1
gopubmedCYP27B1
EVSCYP27B1
HEFalMpCYP27B1
MyGene2CYP27B1
23andMeCYP27B1
UniProtO15528
EnsemblENSG00000111012
OMIM609506
# SNPs18
 Max MagnitudeChromosome positionSummary
rs1087701257,768,302
rs118204007057,764,755
rs118204008057,763,798
rs118204009057,764,147
rs118204010057,764,148
rs118204011057,764,487
rs118204012057,765,320
rs28934604057,766,073
rs28934605057,766,019
rs28934606057,764,510
rs28934607057,764,169
rs378213057,768,115
rs387906258057,765,171
rs387906259057,765,109
rs387906260057,766,131
rs464653657,764,205
rs70384257,768,956
rs761780097057,765,296

CYP27B1 is a gene located on Chromosome 12 that encodes 25-Hydroxyvitamin D3 1-alpha-hydroxylase, a vitamin D-activating enzyme that plays a key role in Vitamin D metabolism in humans. [PMID 24067280]

In December, 2011 a study in the Annals of Neurology reported that rare variants in CYP27B1 were found in 35 children with multiple sclerosis (MS). [PMID 22190362]

Because of the role CYP27B1 plays in Vitamin D metabolism, and the known link between low levels of Vitamin D and multiple sclerosis, it was anticipated that this rare variant would be important to explaining the genetic causes of MS. [PMID 22190362]

However, these findings were not able to be later reproduced in subsequent studies. The Annals of Neurology reported there was no evidence to support a connection between rare CYP27B1 variations and multiple sclerosis in April of 2013. [PMID 23444327]

Further investigations in Canadian populations failed to identify any mutations that would cause the loss of enzymatic activity, but did identify the same rare variants in one family with multiple people with MS. [PMID 24308945]

Variations to the CYP27B1 gene could not be found in any Australian patients with MS. [PMID 23886824]

Because of these conflicting results, no conclusive statement has yet been made on the role of CYP27B1 in MS. [PMID 24308945]


[PMID 22190362] Rare variants in the CYP27B1 gene are associated with multiple sclerosis.


[PMID 23444327] No evidence of association between mutant alleles of the CYP27B1 gene and multiple sclerosis.


[PMID 23483640] No evidence for a role of rare CYP27B1 functional variations in multiple sclerosis.


[PMID 24308945] Analysis of CYP27B1 in multiple sclerosis.


[PMID 24067280] Genetic aspects of vitamin D receptor and metabolism in relation to the risk of multiple sclerosis.


[PMID 23886824] No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.


10.1002/ana.22678 news a rare variant in this gene is implicated in some cases of multiple sclerosis