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

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

Abstract 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 validate...

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Main Authors: Martin Kerick, Marialbert Acosta-Herrera, Carmen Pilar Simeón-Aznar, José Luis Callejas, Shervin Assassi, International SSc Group, Susanna M. Proudman, Mandana Nikpour, Australian Scleroderma Interest Group (ASIG), PRECISESADS Clinical Consortium, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K. de Vries-Bouwstra, Gisela Orozco, Anne Barton, Ariane L. Herrick, Chikashi Terao, Yannick Allanore, Carmen Fonseca, Marta Eugenia Alarcón-Riquelme, Timothy R. D. J. Radstake, Lorenzo Beretta, Christopher P. Denton, Maureen D. Mayes, Javier Martin
Format: Article
Language:English
Published: Nature Portfolio 2022-10-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00327-8

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https://doi.org/10.1038/s41525-022-00327-8

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