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Analysis of the stathmin rs182455 single nucleotide promoter polymorphism in patients with multiple sclerosis.
Journal of Neurogenetics ( IF 1.8 ) Pub Date : 2008-11-18 , DOI: 10.1080/01677060802179287
Mathias Buttmann 1 , Eva Nowak , Antje Kroner , Bernhard Hemmer , Klaus-Peter Lesch , Peter Rieckmann
Affiliation  

Stathmin, a steroid-responsive regulatory protein of oligodendrocyte migration and survival, is highly expressed in active brain lesions of patients with multiple sclerosis (MS) and probably involved in myelin degeneration and repair. Here, we analyzed a single nucleotide polymorphism (rs182455) within the stathmin promoter that is close to a putative steroid-responsive element and has a high minor allelic frequency, in 647 clinically well characterized MS patients and 519 healthy controls. Allelic frequencies were comparable between MS patients and healthy controls. Furthermore, disease course (relapsing-remitting versus secondary progressive versus primary progressive), age of onset or progression index did not convincingly differ between genotypes. We conclude that despite potential importance of stathmin in the pathogenesis of MS, the rs182455 polymorphism does not influence MS susceptibility or clinical disease course.

中文翻译:

多发性硬化症患者的stathmin rs182455单核苷酸启动子多态性分析。

Stathmin是少突胶质细胞迁移和存活的类固醇反应性调节蛋白,在多发性硬化症(MS)患者的活动性脑损伤中高表达,可能参与了髓磷脂的变性和修复。在这里,我们分析了647个临床特征明确的MS患者和519名健康对照者的stathmin启动子内的一个单核苷酸多态性(rs182455),该基因接近假定的类固醇反应元件,并具有较高的次要等位基因频率。MS患者和健康对照组之间的等位基因频率相当。此外,疾病进程(复发缓解与继发进展与原发进展),发病年龄或进展指数在基因型之间没有令人信服的差异。我们得出的结论是,尽管stathmin在MS的发病机理中具有潜在的重要性,
更新日期:2019-11-01
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