J Neuroimmunol. 2016 Feb 15;291:70-2. doi: 10.1016/j.jneuroim.2015.12.014. Epub 2015 Dec 31.
Forwell AL1, Bernales CQ1, Ross JP1, Yee IM1, Encarnacion M1, Lee JD1, Sadovnick AD2, Traboulsee AL3, Vilariño-Güell C4.
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.
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