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.

引用

页数：5

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