多发性硬化症和视神经脊髓炎中CH25H的分析。
Analysis of CH25H in multiple sclerosis and neuromyelitis optica.
作者信息
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
机构信息
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada.
出版信息
J Neuroimmunol. 2016 Feb 15;291:70-2. doi: 10.1016/j.jneuroim.2015.12.014. Epub 2015 Dec 31.
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.
胆固醇代谢过程中由CH25H产生的氧化甾醇已被证明在免疫反应中起重要作用。在本研究中，我们报告了被诊断为多发性硬化症（MS）或视神经脊髓炎（NMO）患者中CH25H的基因特征，以鉴定影响疾病易感性和病程的基因变异。对212例MS患者和14例NMO患者进行外显子组分析，在两名亚洲血统的NMO患者中发现了一种罕见的CH25H p.Q17H突变。此外，对CH25H常见变异的关联分析发现，与呈现符合原发进展型疾病临床病程的MS患者存在名义上显著的关联。
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