Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Publication

Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study.

Journal Paper/Review - May 8, 2024

Borrego-Yaniz Gonzalo, Ortiz-Fernández Lourdes, Madrid-Paredes Adela, Kerick Martin, Hernández-Rodríguez José, Mackie Sarah L, Vaglio Augusto, Castañeda Santos, Solans Roser, Mestre-Torres Jaume, Khalidi Nader, Langford Carol A, Ytterberg Steven, Beretta Lorenzo, Govoni Marcello, Emmi Giacomo, Cimmino Marco A, Witte Torsten, Neumann Thomas, Holle Julia U, Schoenau Verena, Pugnet Gregory, Papo Thomas, Haroche Julien, Mahr Alfred, Mouthon Luc, Molberg Øyvind, Diamantopoulos Andreas P, Voskuyl Alexandre, Daikeler Thomas D, Berger Christoph T, Molloy Eamonn S, Blockmans Daniel, van Sleen Yannick, Iles Mark, Sorensen Louise, Luqmani Raashid A, Reynolds Gary, Bukhari Marwan, Bhagat Shweta, Ortego-Centeno Norberto, Brouwer Elisabeth, Lamprecht Peter, Klapa Sebastian, Salvarani Carlo, Merkel Peter A, Cid María C, González-Gay Miguel A, Morgan Ann W, Martin-Broto Javier, Márquez Ana, Spanish GCA Group, UK GCA Consortium, Vasculitis Clinical Research Consortium

Citation

Borrego-Yaniz G, Ortiz-Fernández L, Madrid-Paredes A, Kerick M, Hernández-Rodríguez J, Mackie S, Vaglio A, Castañeda S, Solans R, Mestre-Torres J, Khalidi N, Langford C, Ytterberg S, Beretta L, Govoni M, Emmi G, Cimmino M, Witte T, Neumann T, Holle J, Schoenau V, Pugnet G, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos A, Voskuyl A, Daikeler T, Berger C, Molloy E, Blockmans D, van Sleen Y, Iles M, Sorensen L, Luqmani R, Reynolds G, Bukhari M, Bhagat S, Ortego-Centeno N, Brouwer E, Lamprecht P, Klapa S, Salvarani C, Merkel P, Cid M, González-Gay M, Morgan A, Martin-Broto J, Márquez A, Spanish GCA Group, UK GCA Consortium, Vasculitis Clinical Research Consortium. Risk loci involved in giant cell arteritis susceptibility: a genome-wide association study. Lancet Rheumatol 2024; 6:e374-e383.

Type

Journal Paper/Review (English)

Journal

Lancet Rheumatol 2024; 6

Publication Date

May 8, 2024

Issn Electronic

2665-9913

Pages

e374-e383

Brief description/objective

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.