Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.
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ABSTRACT:
SUBMITTER: Kerick M
PROVIDER: S-EPMC9534873 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Publications
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis.
Kerick Martin M Acosta-Herrera Marialbert M Simeón-Aznar Carmen Pilar CP Callejas José Luis JL Assassi Shervin S Proudman Susanna M SM Nikpour Mandana M Hunzelmann Nicolas N Moroncini Gianluca G de Vries-Bouwstra Jeska K JK Orozco Gisela G Barton Anne A Herrick Ariane L AL Terao Chikashi C Allanore Yannick Y Fonseca Carmen C Alarcón-Riquelme Marta Eugenia ME Radstake Timothy R D J TRDJ Beretta Lorenzo L Denton Christopher P CP Mayes Maureen D MD Martin Javier J
NPJ genomic medicine 20221005 1
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. The protection contributed per copy of C4A and C4B diffe ...[more]
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