2026-06-14T03:44:26Zhttps://repisalud.isciii.es/rest/oai/request
oai:repisalud.isciii.es:20.500.12105/176002024-09-22T00:02:55Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16927col_20.500.12105_16979col_20.500.12105_16987
Repisalud author Julià, Antonio author López-Longo, Francisco Javier author Pérez Venegas, José J author Bonàs-Guarch, Silvia author Olivé, Àlex author Andreu, José Luís author Aguirre-Zamorano, Mª Ángeles author Vela, Paloma author Nolla, Joan M author de la Fuente, José Luís Marenco author Zea, Antonio author Pego-Reigosa, José María author Freire, Mercedes author Díez, Elvira author Rodríguez-Almaraz, Esther author Carreira, Patricia author Blanco, Ricardo author Taboada, Víctor Martínez author López-Lasanta, María author Corbeto, Mireia López author Mercader, Josep M author Torrents, David author Absher, Devin author Marsal, Sara author Fernández-Nebro, Antonio 2024-02-08T14:41:25Z 2024-02-08T14:41:25Z 2018-05-30 10.1186/s13075-018-1604-1 1478-6362 Arthritis research & therapy http://hdl.handle.net/10668/12520 29848360 http://hdl.handle.net/20.500.12105/17600 Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with a complex genetic inheritance. Genome-wide association studies (GWAS) have significantly increased the number of significant loci associated with SLE risk. To date, however, established loci account for less than 30% of the disease heritability and additional risk variants have yet to be identified. Here we performed a GWAS followed by a meta-analysis to identify new genome-wide significant loci for SLE. We genotyped a cohort of 907 patients with SLE (cases) and 1524 healthy controls from Spain and performed imputation using the 1000 Genomes reference data. We tested for association using logistic regression with correction for the principal components of variation. Meta-analysis of the association results was subsequently performed on 7,110,321 variants using genetic data from a large cohort of 4036 patients with SLE and 6959 controls of Northern European ancestry. Genetic association was also tested at the pathway level after removing the effect of known risk loci using PASCAL software. We identified five new loci associated with SLE at the genome-wide level of significance (p  Our results identify five novel loci for SLE susceptibility, and biologic pathways associated via multiple low-effect-size loci. eng Biological pathway analysis Genetic susceptibility Genome-wide association study Meta-analysis Systemic lupus erythematosus Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus. research article