Journal
JOURNAL OF NEUROIMMUNOLOGY
Volume 291, Issue -, Pages 70-72Publisher
ELSEVIER
DOI: 10.1016/j.jneuroim.2015.12.014
Keywords
CH25H; Association; Mutation; Multiple sclerosis; Neuromyelitis optica
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Funding
- Canada Research Chair [950-228408]
- Canada Excellence Research Chair programs [950-228408]
- Canadian Institute of Health Research [MOP-137051]
- Vancouver Coastal Health Research Institute
- Milan & Maureen Ilich Foundation [11-32095000]
- Vancouver Foundation [ADV14-1597]
- MS Society of Canada Scientific Research Foundation as part of the CCPGSMS
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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. (C) 2016 Elsevier B.V. All rights reserved.
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