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Article 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, , to interrogate C4 copy number variation in MS.

Results: We found higher overall copy number of C4 in controls ( < 10, 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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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC12353292PMC
http://dx.doi.org/10.1177/13524585251324850DOI Listing

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