Ontology highlight
ABSTRACT:
SUBMITTER: Forwell AL
PROVIDER: S-EPMC5092160 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Forwell Amanda L AL Bernales Cecily Q CQ Ross Jay P JP Yee Irene M IM Encarnacion Mary M Lee Joshua D JD Sadovnick A Dessa AD Traboulsee Anthony L AL Vilariño-Güell Carles C
Journal of neuroimmunology 20151231
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, assoc ...[more]