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AB0007 Genome-Wide Association Study of Clinical Phenotypes in Psoriatic Arthritis
  1. J. Cañete1,
  2. J.A. Pinto2,
  3. J. Gratacos3,
  4. R. Queiro4,
  5. C. Montilla5,
  6. J.C. Torre-Alonso6,
  7. J.J. Perez-Venegas7,
  8. A. Fernández Nebro8,
  9. S. Muñoz9,
  10. C. Gonzalez10,
  11. D. Roig11,
  12. P. Zarco12,
  13. A. Erra13,
  14. J. Rodriguez14,
  15. S. Castañeda15,
  16. E. Rubio16,
  17. G. Salvador17,
  18. C. Diaz18,
  19. R. Blanco19,
  20. A. Willisch20,
  21. J.A. Mosquera21,
  22. P. Vela22,
  23. J. Tornero23,
  24. S. Sanchez24,
  25. H. Corominas11,
  26. J. Ramirez25,
  27. M. Lopez-Lasanta26,
  28. M. Lόpez-Corbeto27,
  29. R. Tortosa26,
  30. A. Julià26,
  31. S. Marsal26
  1. 1H. Clínic de Barcelona and IDIBAPS, Barcelona
  2. 2CH Juan Canalejo, A Coruña
  3. 3H. Parc Taulí, Barcelona
  4. 4HU Central de Asturias, Ovido
  5. 5H Virgen de la Vega, Salamanca
  6. 6H Monte Naranco, Ovido
  7. 7H Jerez de la Frontera, Cadiz
  8. 8HRU de Málaga, Malaga
  9. 9HU Infanta Sofía
  10. 10HU Gregorio Marañόn, Madrid
  11. 11H Moisès Broggi, Barcelona
  12. 12HU Fundaciόn Alcorcόn, Madrid
  13. 13H Sant Rafael
  14. 14HU Bellvitge, Barcelona
  15. 15HU la Princesa, IIS-Princesa, Madrid
  16. 16CS Virgen de los Reyes, Sevilla
  17. 17H Mútua de Terrassa, Terrassa
  18. 18H Santa Creu i Sant Pau, Barcelona
  19. 19HU Marqués de Valdecilla, Santander
  20. 20CH Ourense, Orense
  21. 21CH Provincial de Pontevedra, Pontevedra
  22. 22HGU Alicante, Alicante
  23. 23HU Guadalajara, Guadalara
  24. 24H la Mancha Centro, Alcazar de SanJuan
  25. 25H Clínic de Barcelona and IDIBAPS
  26. 26Vall Hebron Research Institute, Barcelona, Spain
  27. 27Grup de Recerca de Reumatologia, Vall Hebron Research Institute, Barcelona, Spain

Abstract

Background Genome-wide association studies (GWAS) in Psoriatic Arthritis (PsA)patients and controls have allowed the identification of multiple variants associated with disease risk. To date, however, no GWAS for PsA phenotypes has been reported.

Objectives The main objective of this study was to identify new genetic variation associated with clinical phenotypes in PsA.

Methods A total of n=835 patients diagnosed with PsA using CASPAR criteria were recruited in the discovery stage and genotyped for >600,000 single nucleotide polymorphisms. GWAS were performed for clinical and biological phenotypes associated with joint and skin disease. After allelic association analysis, those SNPs with highest level of significance were analyzed in an independent cohort of n=414 PsA patients.

Results In the GWAS stage, several genomic regions showing high evidence of association with different PsA phenotypes (P<5e-6) were identified, including axial disease, peripheral disease, bone proliferation, degree of radiological sacroileitis and the presence of syndesmophytes. Also, GWAS on cutaneous phenotypes identified two regions associated with nail disease and skin disease severity. Using the replication cohort, the association between one locus and peripheral pattern, and two loci with axial pattern were validated.

Conclusions Usign a GWAS approach, new loci associated with axial and peripheral disease in PsA have been identified.

Disclosure of Interest None declared

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