OP0310 A Deletion at Adamts9-MAGI1 Locus is Associated with Psoriatic Arthritis Risk. (9th June 2015)

• Record Type: Journal Article
• Authors: Cañete, J.; Pinto, J.A.; Gratacόs, J.; Queirό, R.; Ferrándiz, C.; Fonseca, E.; Montilla, C.; Torre-Alonso, J.C.; Puig, L.; Pérez Venegas, J.J.; Fernández Nebro, A.; Fernández, E.; Muñoz-Fernández, S.; Daudén, E.; González, C.; Roig, D.; Sánchez Carazo, J.L.; Zarco, P.; Erra, A.; Lόpez Estebaranz, J.L.; Rodríguez, J.; Moreno Ramírez, D.; de la Cueva, P.; Vanaclocha, F.; Herrera, E.; Castañeda, S.; Rubio, E.; Salvador, G.; Díaz-Torné, C.; Blanco, R.; Willisch Domínguez, A.; Mosquera, J.A.; Vela, P.; Tornero, J.; Sánchez-Fernández, S.; Corominas, H.; Ramírez, J.; Lόpez-Lasanta, M.; Tortosa, R.; Palau, N.; Alonso, A.; Julià, A.; Marsal, S.;
• Is Part Of: Annals of the rheumatic diseases. Volume 74(2015)Supplement 2
• Page Start: 190
• Page End: 190
• Publication Date: 2015-06-09
• Subjects: Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/annrheumdis-2015-eular.3521
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : Background: Copy-Number Variants (CNV) have been associated to the risk to develop multiple autoimmune diseases. Objectives: 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 PsA patients and 1, 498 controls were genotyped for CNVs using the Illumina HumanHap610 BeadChip. The most significant CNV associations with PsA risk were independently tested in a sample of 1, 133 PsA patients and 1, 831 controls. In order to test for the specificity of the variants with PsA etiology, we also analyzed the association to a cohort of 822 purely cutaneous psoriasis (PsC) patients. Results: A total of 165 common CNVs were identified in the GWAS. We found a highly significant association of an intergenic deletion between ADAMTS9 and MAGI1 genes (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-gen sequencing we characterized the associated deletion. Finally, analyzing the PsC cohort we found a lower frequency of the deletion compared to PsA (p=0.0088) and similar to that of controls (p>0.3). Conclusions: The GWAS for CNVs has identified a new deletion associated with PsA risk and which is also differential from PsC risk. Disclosure of Interest: None declared