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 identificatio...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Journal of neuroimmunology 2016-02, Vol.291, p.70-72
Hauptverfasser:	Forwell, Amanda L, Bernales, Cecily Q, Ross, Jay P, Yee, Irene M, Encarnacion, Mary, Lee, Joshua D, Sadovnick, A. Dessa, Traboulsee, Anthony L, Vilariño-Güell, Carles
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Allergy and Immunology Association CH25H DNA Mutational Analysis Female Genetic Predisposition to Disease - genetics Humans Male Middle Aged Multiple sclerosis Multiple Sclerosis - genetics Multiple Sclerosis - metabolism Mutation Neurology Neuromyelitis optica Neuromyelitis Optica - genetics Neuromyelitis Optica - metabolism Polymorphism, Single Nucleotide - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	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.
ISSN:	0165-5728 1872-8421
DOI:	10.1016/j.jneuroim.2015.12.014