Analysis of CYP27B1 in multiple sclerosis.

Abstract

The analysis of genetic variability in CYP27B1 and its effect on risk of multiple sclerosis (MS) has yielded conflicting results. Here we describe a study to genetically characterize CYP27B1 and elucidate its role on MS risk in the Canadian population. Sequencing CYP27B1 failed to identify mutations known to cause loss of enzymatic activity, however genotyping of p.R389H in cases and controls identified the mutation in one multi-incident family (allele frequency=0.03%) in which the p.R389H mutation segregates with disease in five family members diagnosed with MS, thus providing additional support for CYP27B1 p.R389H in the pathogenicity of MS.

• Authors: Jay P Ross, Cecily Q Bernales, Joshua D Lee, A Dessa Sadovnick, Anthony L Traboulsee, Carles Vilariño-Güell
• Journal: Journal of neuroimmunology (J Neuroimmunol) Vol. 266 Issue 1-2 Pg. 64-6 (Jan 15 2014) ISSN: 1872-8421 [Electronic] Netherlands
• PMID: 24308945 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2013 Elsevier B.V. All rights reserved.

Chemical References

• 25-Hydroxyvitamin D3 1-alpha-Hydroxylase

Topics

• 25-Hydroxyvitamin D3 1-alpha-Hydroxylase (genetics)
• Adult
• Family Health
• Female
• Gene Frequency
• Genetic Association Studies
• Genetic Predisposition to Disease
• Genotype
• Humans
• Male
• Middle Aged
• Multiple Sclerosis (genetics)
• Mutation (genetics)
• Retrospective Studies