在 MSBase 登记的 1813 名复发型多发性硬化症患者中，没有证据表明 rs10191329 严重性位点与纵向疾病严重性之间存在关联。

IF 4.8 2区医学 Q1 CLINICAL NEUROLOGY

Multiple Sclerosis Journal Pub Date : 2024-08-01 Epub Date: 2024-03-21 DOI:10.1177/13524585241240406

Maria Pia Campagna, Eva Kubala Havrdova, Dana Horakova, Guillermo Izquierdo, Fuencisla Matesanz, Sara Eichau, Jeannette Lechner-Scott, Bruce V Taylor, Maria-Isabel García-Sanchéz, Antonio Alcina, Anneke van der Walt, Helmut Butzkueven, Vilija G Jokubaitis

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引用次数: 0

摘要

背景：国际多发性硬化症遗传学联盟和多发性硬化症联盟最近报告了一种与多发性硬化症（MS）严重程度相关的遗传变异。然而，目前仍不清楚这些变异是否仍与更可靠的疾病严重程度纵向测量相关：我们在 MSBase 登记处的 1813 名复发型多发性硬化症患者中研究了 Harroud 等人研究中的顶级变异 rs10191329，以评估其与纵向疾病严重程度的相关性：结果：我们的分析表明，rs10191329基因型与纵向二元疾病严重程度无明显关联（P > 0.05）：这些发现凸显了介导多发性硬化症长期预后的遗传因素的复杂性以及进一步研究的必要性。

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No evidence for association between rs10191329 severity locus and longitudinal disease severity in 1813 relapse-onset multiple sclerosis patients from the MSBase registry.

Background: The International Multiple Sclerosis Genetics Consortium and MultipleMS Consortium recently reported a genetic variant associated with multiple sclerosis (MS) severity. However, it remains unclear if these variants remain associated with more robust, longitudinal measures of disease severity.

Methods: We examined the top variant, rs10191329, from Harroud et al.'s study in 1813 relapse-onset MS patients from the MSBase Registry to assess association with longitudinal disease severity.

Results: Our analysis revealed no significant association between rs10191329 genotype and longitudinal binary disease severity (p > 0.05).

Conclusion: These findings highlight the complexity of genetic factors mediating long-term MS outcomes and the need for further research.

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来源期刊

Multiple Sclerosis Journal 医学-临床神经学

CiteScore

10.90

自引率

6.90%

发文量

186

审稿时长

3-8 weeks

期刊介绍： Multiple Sclerosis Journal is a peer-reviewed international journal that focuses on all aspects of multiple sclerosis, neuromyelitis optica and other related autoimmune diseases of the central nervous system. The journal for your research in the following areas: * __Biologic basis:__ pathology, myelin biology, pathophysiology of the blood/brain barrier, axo-glial pathobiology, remyelination, virology and microbiome, immunology, proteomics * __Epidemology and genetics:__ genetics epigenetics, epidemiology * __Clinical and Neuroimaging:__ clinical neurology, biomarkers, neuroimaging and clinical outcome measures * __Therapeutics and rehabilitation:__ therapeutics, rehabilitation, psychology, neuroplasticity, neuroprotection, and systematic management Print ISSN: 1352-4585