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Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis

5 Oct 2022

Abstract excerpt

Copy number (CN) polymorphisms of complement C4 play distinct roles in many conditions, including immune-mediated diseases. We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort. Our results showed that higher C4 CN confers protection to SSc, and deviations from CN parity of...

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PMID: 36198672
DOI: 10.1038/s41525-022-00327-8

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