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Title: | A deletion at Adamts9-magi1 Locus is associated with psoriatic arthritis risk |
Author: | Julià, Antonio Pinto, José Antonio Gratacós, Jordi Queiró, Rubén Ferrándiz, Carlos Fonseca Capdevila, Eduardo Montilla, Carlos Torre Alonso, Juan Carlos Puig, Lluís Pérez Venegas, José Javier Fernández-Nebro, Antonio Fernández, Emilia Muñoz-Fernández, Santiago Daudén, Esteban González, Carlos Roig, Daniel Sánchez Carazo, José Luis Zarco, Pedro Erra, Alba López Estebaranz, José Luis Rodríguez Moreno, Jesús Moreno Ramírez, David Cueva, Pablo de la Vanaclocha, Francisco Herrera, Enrique Castañeda, Santos Rubio, Esteban Salvador Alarcón, Georgina Díaz-Torné, César Blanco, Ricardo Willisch Domínguez, Alfredo Mosquera, José Antonio Vela, Paloma Tornero, Jesús Sánchez-Fernández, Simón Corominas, Héctor Ramírez, Julio López Lasanta, María Tortosa, Raül Gelpí Buchaca, Josep Lluís Palau, Núria Alonso, Arnald García-Montero, Andrés C. Codo, Laia Day, Kenneth Absher, Devin Cañete Crespillo, Juan D. Marsal Barril, Sara Myers, Richard M. |
Keywords: | Psoriasi Artritis Malalties autoimmunitàries Genòmica Genoma humà Psoriasis Arthritis Autoimmune diseases Genomics Human genome |
Issue Date: | 19-May-2015 |
Publisher: | BMJ Publishing Group |
Abstract: | Objective: Copy number variants (CNVs) have been associated with the risk to develop multiple autoimmune diseases. Our objective was to identify CNVs associated with the risk to develop psoriatic arthritis (PsA) using a genome-wide analysis approach. Methods: A total of 835 patients with PsA and 1498 healthy controls were genotyped for CNVs using the Illumina HumanHap610 BeadChip genotyping platform. Genomic CNVs were characterised using CNstream analysis software and analysed for association using the χ2 test. The most significant genomic CNV associations with PsA risk were independently tested in a validation sample of 1133 patients with PsA and 1831 healthy controls. In order to test for the specificity of the variants with PsA aetiology, we also analysed the association to a cohort of 822 patients with purely cutaneous psoriasis (PsC). Results: A total of 165 common CNVs were identified in the genome-wide analysis. We found a highly significant association of an intergenic deletion between ADAMTS9 and MAGI1 genes on chromosome 3p14.1 (p=0.00014). Using the independent patient and control cohort, we validated the association between ADAMTS9-MAGI1 deletion and PsA risk (p=0.032). Using next-generation sequencing, we characterised the 26 kb associated deletion. Finally, analysing the PsC cohort we found a lower frequency of the deletion compared with the PsA cohort (p=0.0088) and a similar frequency to that of healthy controls (p>0.3). Conclusions: The present genome-wide scan for CNVs associated with PsA risk has identified a new deletion associated with disease risk and which is also differential from PsC risk. |
Note: | Reproducció del document publicat a: https://doi.org/10.1136/annrheumdis-2014-207190 |
It is part of: | Annals of the Rheumatic Diseases, 2015, vol. 74, p. 1875-1881 |
URI: | http://hdl.handle.net/2445/112470 |
Related resource: | https://doi.org/10.1136/annrheumdis-2014-207190 |
ISSN: | 0003-4967 |
Appears in Collections: | Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Bioquímica i Biomedicina Molecular) Articles publicats en revistes (Ciències Clíniques) |
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