Copy number variation at the complement C4 locus is associated with risk for multiple sclerosis.

IF 4.8 2区医学 Q1 CLINICAL NEUROLOGY

Multiple Sclerosis Journal Pub Date : 2025-03-15 DOI:10.1177/13524585251324850

Jacqueline Williams, Wesley M Marin, Kristen J Wade, Rayo Suseno, Kerry Kizer, Stacy Caillier, Danillo G Augusto, Paul J Norman, Jill A Hollenbach

引用次数: 0

Abstract

Background: The complement system has been suspected to play a role in multiple sclerosis (MS) due to presence of complement activation products in MS lesions.

Objective: We sought to understand whether variation in the complement component 4 (C4) gene is associated with MS.

Methods: Here we used next-generation sequencing and our novel bioinformatics tool, C4Investigator, to interrogate C4 copy number variation in MS.

Results: We found higher overall copy number of C4 in controls (p < 10^-16, odds ratio (OR) = 0.43, 95% confidence interval (CI): 0.37-0.49) compared to MS patients with European ancestry.

Conclusion: This finding suggests that lower C4 copies confer risk for MS, similar to associations seen in other autoimmune disorders.

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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