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

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 i...

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Detalles Bibliográficos
Autores principales: Kerick, Martin, Acosta-Herrera, Marialbert, Simeón-Aznar, Carmen Pilar, Callejas, José Luis, Assassi, Shervin, Proudman, Susanna M., Nikpour, Mandana, Hunzelmann, Nicolas, Moroncini, Gianluca, de Vries-Bouwstra, Jeska K., Orozco, Gisela, Barton, Anne, Herrick, Ariane L., Terao, Chikashi, Allanore, Yannick, Fonseca, Carmen, Alarcón-Riquelme, Marta Eugenia, Radstake, Timothy R. D. J., Beretta, Lorenzo, Denton, Christopher P., Mayes, Maureen D., Martin, Javier
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9534873/
https://www.ncbi.nlm.nih.gov/pubmed/36198672
http://dx.doi.org/10.1038/s41525-022-00327-8