Gene for Vitamin D Metabolism Implicated in Multiple Sclerosis

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Gene for Vitamin D Metabolism Implicated in Multiple Sclerosis

Mutations that lead to altered vitamin D activation are identified as rare variants in familial MS.

To identify rare alleles associated with familial transmission of risk for multiple sclerosis (MS), investigators conducted genetic analyses in more than 12,000 people from a cohort of more than 30,000 families, including 43 families that had four or more individuals with MS.

By focusing on genetic regions associated with MS in a previous genome-wide association study, the researchers identified a single nucleotide polymorphism within the CYP27B1 gene that was present in all four individuals with MS from one genotyped family and was incompletely penetrant. Additional CYP27B1 mutations were found within 3046 trios of parents with an affected child and in 422 parent–affected sibling pairs. The CYP27B1 mutation frequency was 0.9% in MS patients compared with 0.0% in 1873 healthy controls. CYP27B1 encodes the enzyme that converts 25-hydroxyvitamin D to biologically active vitamin D.

Comment: Whereas many sequencing studies involve finding major alleles by examining many individual cases, these investigators refined the search by focusing on strongly familial forms of MS. By identifying a rare mutation in a gene associated with vitamin D, this work contributes to understanding a potential mechanism underlying the associations between MS and serum vitamin D level (JW Neurol May 3 2011), ultraviolet exposure with latitude (JW Neurol Feb 7 2011), and late spring birth (BMJ 2005; 330:120). Trials of vitamin D supplementation in MS are now under way to determine whether this will alter relapse rates and magnetic resonance imaging lesions.

— Robert T. Naismith, MD

Published in Journal Watch Neurology January 17, 2012

Citation(s):

Ramagopalan SV et al. Rare variants in the CYP27B1 gene are associated with multiple sclerosis. Ann Neurol 2011 Dec; 70:881.

Medline abstract (Free)

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