학술논문
Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus
Document Type
article
Author
Antonio Julià; Francisco Javier López-Longo; José J. Pérez Venegas; Silvia Bonàs-Guarch; Àlex Olivé; José Luís Andreu; Mª. Ángeles Aguirre-Zamorano; Paloma Vela; Joan M. Nolla; José Luís Marenco de la Fuente; Antonio Zea; José María Pego-Reigosa; Mercedes Freire; Elvira Díez; Esther Rodríguez-Almaraz; Patricia Carreira; Ricardo Blanco; Víctor Martínez Taboada; María López-Lasanta; Mireia López Corbeto; Josep M. Mercader; David Torrents; Devin Absher; Sara Marsal; Antonio Fernández-Nebro
Source
Arthritis Research & Therapy, Vol 20, Iss 1, Pp 1-10 (2018)
Subject
Language
English
ISSN
1478-6362
Abstract
Abstract Background 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. Methods 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. Results We identified five new loci associated with SLE at the genome-wide level of significance (p