A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Authors: Callejas, José Luis, Caminal-Montero, Luis, Corbera-Bellalta, Marc, de Miguel, Eugenio, López, J. Bernardino Díaz, García-Villanueva, María Jesús, Gómez-Vaquero, Carmen, Guijarro-Rojas, Mercedes, Hidalgo-Conde, Ana, Marí-Alfonso, Begoña, Berriochoa, Agustín Martínez, Zapico, Aleida Martínez, Martínez-Taboada, Víctor Manuel, Miranda-Filloy, José A., Monfort, Jordi, Ortego-Centeno, Norberto, Pérez-Conesa, Mercedes, Prieto-González, Sergio, Raya, Enrique, Fernández, Raquel Ríos, Sánchez-Martín, Julio, Sopeña, Bernardo, Tío, Laura, Unzurrunzaga, Ainhoa, Gough, Andrew, Isaacs, John D., Green, Michael, McHugh, Neil, Hordon, Lesley, Kamath, Sanjeet, Nisar, Mohammed, Patel, Yusuf, Yee, Cee-Seng, Stevens, Robert, Nandi, Pradip, Nandagudi, Anupama, Jarrett, Stephen, Li, Charles, Levy, Sarah, Mollan, Susan, Salih, Abdel, Wordsworth, Oliver, Sanders, Emma, Roads, Esme, Gill, Anne, Carr, Lisa, Routledge, Christine, Culfear, Karen, Nugaliyadde, Asanka, James, Lynne, Spimpolo, Jenny, Kempa, Andy, Mackenzie, Felicity, Fong, Rosanna, Peters, Genessa, Rowbotham, Bridie, Masqood, Zahira, Hollywood, Jane, Gondo, Prisca, Wood, Rose, Martin, Steve, Rashid, Lubna Haroon, Robinson, James I., Morgan, Mike, Sorensen, Louise, Taylor, John, Carette, Simon, Chung, Sharon, Cuthbertson, David, Forbess, Lindsy J., Gewurz-Singer, Ora, Hoffman, Gary S., Koening, Curry L., Maksimowicz-McKinnon, Kathleen M., McAlear, Carol A., Moreland, Larry W., Pagnoux, Christian, Seo, Philip, Specks, Ulrich, Spiera, Robert F., Sreih, Antoine, Warrington, Kenneth J., Weisman, Michael, Carmona, F. David, Vaglio, Augusto, Mackie, Sarah L., Hernández-Rodríguez, José, Monach, Paul A., Castañeda, Santos, Solans, Roser, Morado, Inmaculada C., Narváez, Javier, Ramentol-Sintas, Marc, Pease, Colin T., Dasgupta, Bhaskar, Watts, Richard, Khalidi, Nader, Langford, Carol A., Ytterberg, Steven, Boiardi, Luigi, Beretta, Lorenzo, Govoni, Marcello, Emmi, Giacomo, Bonatti, Francesco, Cimmino, Marco A., Witte, Torsten, Neumann, Thomas, Holle, Julia, Schönau, Verena, Sailler, Laurent, Papo, Thomas, Haroche, Julien, Mahr, Alfred, Mouthon, Luc, Molberg, Øyvind, Diamantopoulos, Andreas P., Voskuyl, Alexandre, Brouwer, Elisabeth, Daikeler, Thomas, Berger, Christoph T., Molloy, Eamonn S., O’Neill, Lorraine, Blockmans, Daniel, Lie, Benedicte A., Mclaren, Paul, Vyse, Timothy J., Wijmenga, Cisca, Allanore, Yannick, Koeleman, Bobby P.C., Barrett, Jennifer H., Cid, María C., Salvarani, Carlo, Merkel, Peter A., Morgan, Ann W., González-Gay, Miguel A., Martín, Javier

Source: In The American Journal of Human Genetics 5 January 2017 100(1):64-74

A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts.

Authors: Poulter, James, UKGCA/VEXAS Consortium, Gough, Andrew, Isaacs, John D., Green, Michael, McHugh, Neil, Hordon, Lesley, Kamath, Sanjeet, Nisar, Mohammed, Patel, Yusuf, Yee, Cee-Seng, Stevens, Robert, Nandi, Pradip, Nandagudi, Anupama, Jarrett, Stephen, Li, Charles, Levy, Sarah, Mollan, Susan, Salih, Abdel, Makie, Sarah

Source: Journal of Clinical Immunology; Jul2022, Vol. 42 Issue 5, p947-951, 5p

Subject Terms: GIANT cell arteritis, HIGH throughput screening (Drug development), MYELODYSPLASTIC syndromes