title: Analysis of CH25H in multiple sclerosis and neuromyelitis optica.
abstract: Oxysterols produced by CH25H during cholesterol metabolism have been shown to play an important role in the immune response. In this study we report the genetic characterization of CH25H in patients diagnosed with multiples sclerosis (MS) or neuromyelitis optica (NMO), for the identification of genetic variants affecting disease susceptibility and course. Exome analysis in 212 MS and 14 NMO patients identified a rare CH25H p.Q17H mutation in two NMO patients of Asian ancestry. In addition, association analysis of common CH25H variants identified a nominally significant association with MS patients presenting a clinical course consistent with primary progressive disease.
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Amanda L
authors: AL
authors: Forwell
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Cecily Q
authors: CQ
authors: Bernales
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Jay P
authors: JP
authors: Ross
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Irene M
authors: IM
authors: Yee
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Mary
authors: M
authors: Encarnacion
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
authors: Joshua D
authors: JD
authors: Lee
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
authors: A Dessa
authors: AD
authors: Sadovnick
authors: Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
authors: Anthony L
authors: AL
authors: Traboulsee
authors: Department of Medical Genetics, University of British Columbia, Vancouver, Canada. Electronic address: carles@can.ubc.ca.
authors: Carles
authors: C
authors: Vilariño-Güell
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics* / Q000378:metabolism; D009471:Neuromyelitis Optica / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
keywords: Association; CH25H; Multiple sclerosis; Mutation; Neuromyelitis optica