Autores
Maureen D Mayes, Lara Bossini-Castillo, Olga Gorlova, José Ezequiel Martin, Xiaodong Zhou, Wei V Chen, Shervin Assassi, Jun Ying, Filemon K Tan, Frank C Arnett, John D Reveille, Sandra Guerra, María Teruel, Francisco David Carmona, Peter K Gregersen, Annette T Lee, Elena López-Isac, Eguzkine Ochoa, Patricia Carreira, Carmen Pilar Simeón, Iván Castellví, Miguel Ángel González-Gay, Norberto Ortego-Centeno, Raquel Ríos, José Luis Callejas, Nuria Navarrete, Rosa García Portales, María Teresa Camps, Antonio Fernández-Nebro, María F González-Escribano, Julio Sánchez-Román, Francisco José García-Hernández, María Jesús Castillo, María Ángeles Aguirre, Inmaculada Gómez-Gracia, Benjamín Fernández-Gutiérrez, Luis Rodríguez-Rodríguez, Esther Vicente, José Luis Andreu, Mónica Fernández de Castro, Paloma García de la Peña, Francisco Javier López-Longo, Lina Martínez, Vicente Fonollosa, Gerard Espinosa, Carlos Tolosa, Anna Pros, Mónica Rodríguez Carballeira, Francisco Javier Narváez, Manel Rubio Rivas, Vera Ortiz Santamaría, Bernardino Díaz, Luis Trapiella, María del Carmen Freire, Adrián Sousa, María Victoria Egurbide, Patricia Fanlo Mateo, Luis Sáez-Comet, Federico Díaz, Vanesa Hernández, Emma Beltrán, José Andrés Román-Ivorra, Elena Grau, Juan José Alegre Sancho, Francisco J Blanco García, Natividad Oreiro, Luis Fernández Sueiro, Alexandra Zhernakova, Leonid Padyukov, Marta Alarcón-Riquelme, Cisca Wijmenga, Matthew Brown, Lorenzo Beretta, Gabriela Riemekasten, Torsten Witte, Nicolas Hunzelmann, Alexander Kreuter, Jörg HW Distler, Alexandre E Voskuyl, Annemie J Schuerwegh, Roger Hesselstrand, Annika Nordin, Paolo Airó, Claudio Lunardi, Paul Shiels, Jacob M van Laar, Ariane Herrick, Jane Worthington, Christopher Denton, Fredrick M Wigley, Laura K Hummers, John Varga, Monique E Hinchcliff, Murray Baron, Marie Hudson, Janet E Pope, Daniel E Furst, Dinesh Khanna, Kristin Phillips, Elena Schiopu, Barbara M Segal, Jerry A Molitor, Richard M Silver, Virginia D Steen, Robert W Simms, Robert A Lafyatis, Barri J Fessler, Tracy M Frech, Firas AlKassab, Peter Docherty, Elzbieta Kaminska, Nader Khalidi, Henry Niall Jones, Janet Markland, David Robinson, Jasper Broen, Timothy RDJ Radstake, Carmen Fonseca, Bobby P Koeleman, Javier Martin
Fecha de publicación
2014/1/2
Revista
The American Journal of Human Genetics
Volumen
94
Número
1
Páginas
47-61
Editor
Elsevier
Descripción
In this study, 1,833 systemic sclerosis (SSc) cases and 3,466 controls were genotyped with the Immunochip array. Classical alleles, amino acid residues, and SNPs across the human leukocyte antigen (HLA) region were imputed and tested. These analyses resulted in a model composed of six polymorphic amino acid positions and seven SNPs that explained the observed significant associations in the region. In addition, a replication step comprising 4,017 SSc cases and 5,935 controls was carried out for several selected non-HLA variants, reaching a total of 5,850 cases and 9,401 controls of European ancestry. Following this strategy, we identified and validated three SSc risk loci, including DNASE1L3 at 3p14, the SCHIP1-IL12A locus at 3q25, and ATG5 at 6q21, as well as a suggested association of the TREH-DDX6 locus at 11q23. The associations of several previously reported SSc risk loci were validated and …
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MD Mayes, L Bossini-Castillo, O Gorlova, JE Martin… - The American Journal of Human Genetics, 2014