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

被引：0
|
作者：
Williams, Jacqueline [1 ]
Marin, Wesley M. [1 ]
Wade, Kristen J. [1 ]
Suseno, Rayo [1 ]
Kizer, Kerry [1 ]
Caillier, Stacy [1 ]
Augusto, Danillo G. [1 ,2 ,3 ]
Norman, Paul J. [4 ,5 ]
Hollenbach, Jill A. [1 ,6 ]
机构：
[1] Univ Calif San Francisco, Dept Neurol, 675 Nelson Rising Lane, San Francisco, CA 94158 USA
[2] Univ North Carolina Charlotte, Dept Biol Sci, Charlotte, NC USA
[3] Univ Fed Parana, Programa Posgrad Genet, Curitiba, Brazil
[4] Univ Colorado Anschutz Med Campus, Dept Biomed Informat, Aurora, CO USA
[5] Univ Colorado Anschutz Med Campus, Dept Immunol & Microbiol, Aurora, CO USA
[6] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA USA
来源：
MULTIPLE SCLEROSIS JOURNAL | 2025年
关键词：
Complement component; multiple sclerosis; C4; immunogenetics;
D O I：
10.1177/13524585251324850
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
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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页数：5
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