Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/112470
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
Gonzáles, Carlos
Roig, Daniel
Sánchez Carazo, José Luís
Zarco, Pedro
Erra, Alba
López Estebaranz, José Luís
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
Gelpi Buchaca, Josep Lluís
Palau, Nuria
Alonso, Arnald
García-Montero, Andrés C.
Codó, Laia
Day, Kenneth
Absher, Devin
Cañete Crespillo, Juan D.
Marsal, 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
Related resource: https://doi.org/10.1136/annrheumdis-2014-207190
URI: http://hdl.handle.net/2445/112470
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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