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]
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.