Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome

Sjögren's syndrome is a common autoimmune disease (affecting ?0.7% of European Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we report results of a large-scale association study of Sjögren's syndrome. In addition to strong association within the human leukocyte antigen (HLA) region at 6p21 (P meta = 7.65 × 10 -114), we establish associations with IRF5-TNPO3 (P meta = 2.73 × 10 -19), STAT4 (P meta = 6.80 × 10 -15), IL12A (P meta = 1.17 × 10 -10), FAM167A-BLK (P meta = 4.97 × 10 -10), DDX6-CXCR5 (P meta = 1.10 × 10 -8) and TNIP1 (P meta = 3.30 × 10 -8). We also observed suggestive associations (P meta less than 5 × 10 -5) with variants in 29 other regions, including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2 and PHIP, among others. These results highlight the importance of genes that are involved in both innate and adaptive immunity in Sjögren's syndrome. © 2013 Nature America, Inc. All rights reserved.

• Fecha de publicación: 2013
• Institución: Universidad del Rosario
• Repositorio: Repositorio EdocUR - U. Rosario
• Idioma: eng
• OAI Identifier: oai:repository.urosario.edu.co:10336/22639
• Acceso en línea: https://doi.org/10.1038/ng.2792; https://repository.urosario.edu.co/handle/10336/22639
• Palabra clave: B lymphocyte induced maturation protein 1; Chemokine receptor CXCR5; HLA DQA1 antigen; HLA DQB1 antigen; HLA DR antigen; Interferon regulatory factor 5; Interleukin 12p35; Securin; STAT4 protein; Adaptive immunity; Article; Case control study; Chromatin immunoprecipitation; Chromosome 8; Controlled study; Gene frequency; Gene locus; Genetic association; Genetic variability; Haplotype; HLA system; Human; Innate immunity; Intron; Major clinical study; Meta analysis (topic); Priority journal; Protein protein interaction; Sjoegren syndrome; Adaptive Immunity; Genetic Association Studies; Genetic Loci; Genetic Variation; Histocompatibility Antigens Class II; Humans; Sjogren's Syndrome; Innate; Immunity
• License: Abierto (Texto Completo)