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OP0310 A Deletion at Adamts9-MAGI1 Locus is Associated with Psoriatic Arthritis Risk
  1. J. Cañete1,
  2. J.A. Pinto2,
  3. J. Gratacόs3,
  4. R. Queirό4,
  5. C. Ferrándiz5,
  6. E. Fonseca6,
  7. C. Montilla7,
  8. J.C. Torre-Alonso8,
  9. L. Puig9,
  10. J.J. Pérez Venegas10,
  11. A. Fernández Nebro11,
  12. E. Fernández12,
  13. S. Muñoz-Fernández13,
  14. E. Daudén14,
  15. C. González15,
  16. D. Roig16,
  17. J.L. Sánchez Carazo17,
  18. P. Zarco18,
  19. A. Erra19,
  20. J.L. Lόpez Estebaranz20,
  21. J. Rodríguez21,
  22. D. Moreno Ramírez22,
  23. P. de la Cueva23,
  24. F. Vanaclocha24,
  25. E. Herrera25,
  26. S. Castañeda14,
  27. E. Rubio26,
  28. G. Salvador27,
  29. C. Díaz-Torné9,
  30. R. Blanco28,
  31. A. Willisch Domínguez29,
  32. J.A. Mosquera30,
  33. P. Vela31,
  34. J. Tornero32,
  35. S. Sánchez-Fernández33,
  36. H. Corominas34,
  37. J. Ramírez1,
  38. M. Lόpez-Lasanta35,
  39. R. Tortosa35,
  40. N. Palau35,
  41. A. Alonso35,
  42. A. Julià35,
  43. S. Marsal35
  1. 1H.Clínic Barcelona, Barcelona
  2. 2H.Juan Canalejo, A Coruña
  3. 3H.Parc Taulí, Sabadell
  4. 4H.U.C.Asturias, Oviedo
  5. 5H.U.Germans Trias i Pujol, Badalona
  6. 6C.H.Juan Canalejo, A Coruña
  7. 7H.Virgen de la Vega, Salamanca
  8. 8H.Monte Naranco, Oviedo
  9. 9H.Santa Creu i Sant Pau, Barcelona
  10. 10H.SAS Jerez de la Frontera, Cádiz
  11. 11H.R.U. Carlos Haya, Málaga
  12. 12H.U. Salamanca, Salamanca
  13. 13H.Infanta Sofía
  14. 14H.U.La Princesa
  15. 15H.U.Gregorio Marañόn, Madrid
  16. 16CAE Cornellá, Barcelona
  17. 17H.G.U.Valencia, Valencia
  18. 18F.H.Alcorcόn, Madrid
  19. 19H.Sant Rafael, Barcelona
  20. 20H.Alcorcόn, Madrid
  21. 21H.U.Bellvitge, Barcelona
  22. 22H.Virgen Macarena, Sevilla
  23. 23H.U.Infanta Leonor
  24. 24H.U.12 de Octubre, Madrid
  25. 25H.C.Virgen de la Victoria, Málaga
  26. 26C.S.Virgen de los Reyes, Sevilla
  27. 27H.M.Terrassa, Terrassa
  28. 28H.U.Marqués de Valdecilla, Santander
  29. 29C.H.Ourense, Ourense
  30. 30C.H.P.Pontevedra, Pontevedra
  31. 31H.G.U.Alicante, Alicante
  32. 32H.U.Guadalajara, Guadalajara
  33. 33H.G.La Mancha Centro, Ciudad Real
  34. 34H.Moisès Broggi, Sant Joan Despí
  35. 35H.U.Vall Hebron, Barcelona, Spain

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

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