Gonzalo Borrego-Yaniz, Lourdes Ortiz-Fernández, Adela Madrid-Paredes, Martin Kerick, José Hernández-Rodríguez, Sarah L Mackie, Augusto Vaglio, Santos Castañeda, Roser Solans, Jaume Mestre-Torres, Nader Khalidi, Carol A Langford, Steven Ytterberg, Lorenzo Beretta, Marcello Govoni, Giacomo Emmi, Marco A Cimmino, Torsten Witte, Thomas Neumann, Julia Holle, Verena Schönau, Gregory Pugnet, Thomas Papo, Julien Haroche, Alfred Mahr, Luc Mouthon, Øyvind Molberg, Andreas P Diamantopoulos, Alexandre Voskuyl, Thomas Daikeler, Christoph T Berger, Eamonn S Molloy, Daniel Blockmans, Yannick van Sleen, Mark Iles, Louise Sorensen, Raashid Luqmani, Gary Reynolds, Marwan Bukhari, Shweta Bhagat, Norberto Ortego-Centeno, Elisabeth Brouwer, Peter Lamprecht, Sebastian Klapa, Carlo Salvarani, Peter A Merkel, María C Cid, Miguel A González-Gay, Ann W Morgan, Javier Martin, Ana Márquez
BACKGROUND: Giant cell arteritis is an age-related vasculitis that mainly affects the aorta and its branches in individuals aged 50 years and older. Current options for diagnosis and treatment are scarce, highlighting the need to better understand its underlying pathogenesis. Genome-wide association studies (GWAS) have emerged as a powerful tool for unravelling the pathogenic mechanisms involved in complex diseases. We aimed to characterise the genetic basis of giant cell arteritis by performing the largest GWAS of this vasculitis to date and to assess the functional consequences and clinical implications of identified risk loci...
May 8, 2024: Lancet Rheumatology