Analysis of CH25H in multiple sclerosis and neuromyelitis optica

J Neuroimmunol. 2016 Feb 15:291:70-2. doi: 10.1016/j.jneuroim.2015.12.014. Epub 2015 Dec 31.

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.

Keywords: Association; CH25H; Multiple sclerosis; Mutation; Neuromyelitis optica.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Multiple Sclerosis / genetics*
  • Multiple Sclerosis / metabolism
  • Neuromyelitis Optica / genetics*
  • Neuromyelitis Optica / metabolism
  • Polymorphism, Single Nucleotide / genetics*