Suppr超能文献

甘丙肽基因多态性 rs948854 对多发性硬化严重程度的影响:与发病年龄显著相关。

The effect of galanin gene polymorphism rs948854 on the severity of multiple sclerosis: A significant association with the age of onset.

机构信息

Federal State Budgetary Scientific Institution "Institute of Experimental medicine", 197376, Akad. Pavlov str. 12, St. Petersburg, Russia.

Federal State Budgetary Scientific Institution "Institute of Experimental medicine", 197376, Akad. Pavlov str. 12, St. Petersburg, Russia.

出版信息

Mult Scler Relat Disord. 2020 Jan;37:101439. doi: 10.1016/j.msard.2019.101439. Epub 2019 Oct 9.

Abstract

BACKGROUND

Data on genetic markers that determine the prognosis of multiple sclerosis (MS) is still limited. The association between galanin gene polymorphism rs948854 and prognosis of MS had been demonstrated earlier.

OBJECTIVES

To confirm earlier findings in a distinct from the previously studied cohort of patients, and to further characterized the rs948854 polymorphism as one of the candidates for the risk stratification in patients with MS.

METHODS

To assess the rate of disease progression, the MS severity score (MSSS) and Age Related Multiple Sclerosis Severity (ARMSS) score were used, along with the Progression Index (PI).

RESULTS

The significant association of a minor allele of rs948854 polymorphism with the severity of the course of multiple sclerosis was revealed, confirming earlier findings. An increase in the proportion of patients with a MSSS > 5 (high rate of progression) was observed among the minor G allele carriers (genotypes AG and GG) compared to patients with AA genotype. Furthermore, the age at onset correlated with the MSSS value only in the group of minor allele carriers and the effect of a minor allele appeared only in patients with the late age at onset (>30 years).

CONCLUSION

Collectively, our data support the contribution of galanin gene polymorphism rs948854 to the mechanisms of adverse course of the disease in the late onset MS.

摘要

背景

目前关于决定多发性硬化症(MS)预后的遗传标志物的数据仍然有限。早些时候已经证明了甘丙肽基因多态性 rs948854 与 MS 预后之间存在关联。

目的

在与之前研究的患者队列不同的队列中证实早期发现,并进一步将 rs948854 多态性特征化为 MS 患者风险分层的候选基因之一。

方法

为了评估疾病进展的速度,使用 MS 严重程度评分(MSSS)和年龄相关多发性硬化症严重程度评分(ARMSS)以及进展指数(PI)。

结果

揭示了 rs948854 多态性的次要等位基因与多发性硬化症病程严重程度的显著关联,证实了早期发现。与 AA 基因型患者相比,携带 MSSS>5(高进展率)的患者中,次要 G 等位基因携带者(AG 和 GG 基因型)的比例增加。此外,发病年龄仅与次要等位基因携带者的 MSSS 值相关,并且次要等位基因的作用仅出现在发病年龄较晚(>30 岁)的患者中。

结论

总的来说,我们的数据支持甘丙肽基因多态性 rs948854 对晚发性 MS 疾病不良病程机制的贡献。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验