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

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

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 C4A and C4B augmented risk.

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

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

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