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