RT Journal Article
T1 Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus.
A1 Julia, Antonio
A1 Lopez-Longo, Francisco Javier
A1 Perez-Venegas, Jose J
A1 Bonas-Guarch, Silvia
A1 Olive, Alex
A1 Andreu, Jose Luís
A1 Aguirre-Zamorano, Mª Angeles
A1 Vela, Paloma
A1 Nolla, Joan M
A1 Marenco-de-la-Fuente, Josr Luis
A1 Zea, Antonio
A1 Pego-Reigosa, Jose Maria
A1 Freire, Mercedes
A1 Diez, Elvira
A1 Rodriguez-Almaraz, Esther
A1 Carreira, Patricia
A1 Blanco, Ricardo
A1 Taboada, Victor Martinez
A1 Lopez-Lasanta, Maria
A1 Lopez-Corbeto, Mireia
A1 Mercader, Josep M
A1 Torrents, David
A1 Absher, Devin
A1 Marsal, Sara
A1 Fernandez-Nebro, Antonio
K1 Biological pathway analysis
K1 Genetic susceptibility
K1 Genome-wide association study
K1 Meta-analysis
K1 Systemic lupus erythematosus
K1 Área de Gestión Sanitaria de Jerez, Costa Noroeste y Sierra de Cádiz
K1 Área de Gestión Sanitaria Sur de Sevilla
AB 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.
PB BioMed Central
YR 2018
FD 2018-05-30
LK http://hdl.handle.net/10668/12520
UL http://hdl.handle.net/10668/12520
LA en
NO Julià A, López-Longo FJ, Pérez Venegas JJ, Bonàs-Guarch S, Olivé À, Andreu JL, et al. Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus. Arthritis Res Ther. 2018 May 30;20(1):100
DS RISalud
RD Apr 19, 2025