title: 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.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Jay P
authors.initials: JP
authors.lastname: Ross
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Cecily Q
authors.initials: CQ
authors.lastname: Bernales
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Lee
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
authors.forename: A Dessa
authors.initials: AD
authors.lastname: Sadovnick
authors.affiliation: Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
authors.forename: Anthony L
authors.initials: AL
authors.lastname: Traboulsee
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. Electronic address: carles@can.ubc.ca.
authors.forename: Carles
authors.initials: C
authors.lastname: Vilariño-Güell
mesh_terms: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase / Q000235:genetics*; D000328:Adult; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012189:Retrospective Studies
chemical_list: D015090:25-Hydroxyvitamin D3 1-alpha-Hydroxylase
keywords: CYP27B1; Linkage; Multiple sclerosis; Mutation