Accès ouvert déclaré
2022
article
Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
Martin Kerick, Marialbert Acosta‐Herrera, Carmen Pilar Simeón‐Aznar, José Luís Callejas-Rubio, Shervin Assassi, Patrícia Carreira, I. Castellví, Raimon Rios, R. García Portales, Antonio Fernández‐Nebro, Francisco José García Hernández, M. Á. Aguirre, Benjamín Fernández‐Gutiérrez, Luis Rodríguez‐Rodríguez, Paloma García de la Peña, Esther Vicente, José Luís Andreu, M. Fernández Castro, Francisco Javier López-Longo, Alberto Guillén, Gerard Espinosa, Carlos Tolosa, A. Pros, E. Beltrán, Mónica Rodríguez‐Carballeira, Javier Narváez, Manuel Rubio Rivas, V. Ortiz-Santamaría, Ana Belén Madroñero, Miguel Á. González‐Gay, Bianca J. Diaz, Luis Trapiella, M. V. Egurbide, P. Fanlo-Mateo, Luís Sáez-Comet, Fidel Díez Díaz, José Andrés Román-Ivorra, Juan José Alegre Sancho, M. Freire, Fabián García, N. Oreiro, T Witte, Alexander Kreuter, G. Riemekasten, Paolo Airó, Alexandre E. Voskuyl, Roger Hesselstrand, Annika Nordin, Claudio Lunardi, Anna‐Maria Hoffmann‐Vold, Jörg H. W. Distler, Leonid Padyukov, Bobby P. C. Koeleman, Susanna Proudman, Mandana Nikpour, Wendy Stevens, Jane Zochling, J. Sahhar, Janet Roddy, Peter Nash, Kathleen Tymms, Maureen Rischmueller, Sue Lester, Barbara Vigone, Jacques‐Olivier Pers, Alain Saraux, Valérie Devauchelle‐Pensec, Divi Cornec, Sandrine Jousse‐Joulin, Bernard Lauwerys, Julie Ducreux, Anne‐Lise Maudoux, Carlos Vasconcelos, Ana Tavares, Esmeralda Neves, Raquel Faria, Mariana Brandão, Ana Campar, António Marinho, Fátima Farinha, Isabel Almeida, Ricardo Blanco, Alfonso Corrales Martínez, Ricard Cervera, Ignasi Rodríguez‐Pintó, Rik Lories, Ellen De Langhe, Doreen Belz, Torsten Witte, Niklas Baerlecken, Georg Stummvoll, Michael Zauner, Michaela Lehner, Eduardo Collantes‐Estévez, R. Ortega Castro, Ma Angeles Aguirre-Zamorano, Alejandro Escudero‐Contreras, Ma Carmen Castro‐Villegas, María Concepción Fernández Roldán, N. Ortego, Enrique Raya, Inmaculada Jiménez Moleón, Enrique de Ramón, Isabel Díaz Quintero, Pier Luigi Meroni, Maria Gerosa, Tommaso Schioppo, Carolina Artusi, Carlo Chizzolini, Aleksandra Zuber, Donatienne Wynar, László Kovács, Attila Balog, Magdolna Deák, Márta Bocskai, Sonja Dulic, Gabriella Kádár, Falk Hiepe, Velia Gerl, Silvia Thiel, Manuel Rodríguez Maresca, Antonio López‐Berrio, Rocío Aguilar‐Quesada, Héctor Navarro‐Linares, Nicolas Hunzelmann, Gianluca Moroncini, Jeska K de Vries‐Bouwstra, Gisela Orozco, Anne Barton, Ariane L. Herrick, Chikashi Terao, Yannick Allanore, Carmen Fonseca, Marta E. Alarcón‐Riquelme, Timothy R. D. J. Radstake, Lorenzo Beretta, Christopher P. Denton, Maureen D. Mayes, Javier Martı́n
18Citations signalées, ce qui n’est pas une note de qualité
84Institutions déclarées
16Pays d’affiliation déclarés
Rattachement africain : es, us, de, it, nl, se, no, au, fr, be, pt, at, ch, hu, gb, jp.
Niveau de preuve : code pays fourni par la source.
Le résumé fourni par la source
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 differed by sex. Stronger protection was afforded by C4A in men and by C4B in women. C4 CN correlated well with its gene expression and serum protein levels, and less C4 was detected for both in SSc patients. Conditioned analysis suggests that C4 genetics strongly contributes to the SSc association within the major histocompatibility complex locus and highlights classical alleles and amino acid variants of HLA-DRB1 and HLA-DPB1 as C4-independent signals.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosis
- Date Crossref
- 05/10/2022
- Éditeur
- Springer Science and Business Media LLC
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Les institutions déclarées
Une affiliation ne permet pas de déduire la nationalité d’un auteur.
Les sujets associés
Renal Diseases and GlomerulopathiesSystemic Sclerosis and Related DiseasesComplement system in diseases