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AB0017 Association study of genetic risk variants for psoriasis in a large cohort of psoriatic arthritis, psoriasis and controls of the spanish population and association with relevant clinical subphenotypes
  1. J.D. Cañete1,
  2. J.M. Hernanz2,
  3. E. Fonseca3,
  4. C. Ferrandiz4,
  5. P. Unamuno5,
  6. L. Puig6,
  7. J.L. Fernandez-Sueiro3,
  8. R. Sanmartí7,
  9. J. Rodriguez8,
  10. J. Gratacόs9,
  11. E. Dauden10,
  12. J.L. Sánchez-Carazo11,
  13. J.L. Lόpez-Estebaranz12,
  14. D. Moreno13,
  15. R. Queirό14,
  16. C. Ferrandiz15,
  17. J.C. Torre-Alonso16,
  18. J.J. Pérez-Venegas17,
  19. F. Vanaclocha18,
  20. E. Herrera19,
  21. S. Muñoz-Fernández20,
  22. C. González2,
  23. D. Roig21,
  24. A. Erra22,
  25. I. Acosta23,
  26. A. Fernandez-Nebro24,
  27. P. Zarco12,
  28. A. Alonso25,
  29. M. Lόpez-Lasanta25,
  30. A. Julià25,
  31. R. Tortosa25,
  32. S. Marsal25
  1. 1Hospital Clinic i Provincial de Barcelona, Barcelona
  2. 2Hospital Universitario Gregorio Marañόn, Madrid
  3. 3Complejo Hospitalario Juan Canalejo, A Coruña
  4. 4Hospital Universitari Germans Trias i Pujol, Badalona
  5. 5Hospital Universitario de Salamanca, Salamanca
  6. 6Hospital de la Santa Creu i Sant Pau
  7. 7Hospital Clinic de Barcelona
  8. 8Hospital Universitari de Bellvitge, Barcelona
  9. 9Hospital Parc Taulí, Sabadell, Barcelona
  10. 10Hospital Universitario La Princesa, Madrid
  11. 11Hospital General Universitario de Valencia, Valencia
  12. 12Hospital Universitario Fundaciόn Alcorcόn, Madrid
  13. 13Hospital Universitario Virgen Macarena, Sevilla
  14. 14Hospital Universitario Central de Asturias, Oviedo
  15. 15Hospital Virgen de la Vega, Salamanca
  16. 16Hospital Monte Naranco, Oviedo
  17. 17Hospital de Jerez de la Frontera, Cádiz
  18. 18Hospital Universitario 12 de Octubre, Madrid
  19. 19Hospital Universitario Virgen de la Victoria, Málaga
  20. 20Hospital Universitario Infanta Sofía, Madrid
  21. 21Centre d’Atenciό Especialitzada de Cornellà
  22. 22Hospital Sant Rafael
  23. 23Hospital Universitario Vall Hebron, Barcelona
  24. 24Hospital Regional Universitario Carlos Haya, Málaga
  25. 25Rheumatology Research Group, Vall Hebron Hospital Research Institute, Barcelona, Spain

Abstract

Background Psoriatic Arthritis (PsA) is a complex disease with a substantial genetic risk component (first-degree relative risk ∼55). Recently, Genomewide Association Studies (GWAS) have expanded the number of risk loci for Psoriasis (Ps) in >20 new loci.

Objectives We have studied the association of Ps risk loci in PsA and purely cutaneous Ps (PsC). We have also analyzed the genetic association with several subphenotypes of clinical relevance.

Methods Loci showing the strongest statistical evidence of association to Ps were selected (n=32). The SNP having the highest statistical evidence was genotyped using Taqman technology in a cohort of n=955 PsA, 1,050 PsC and 1,497 hypernormal controls of the Spanish population. According to each subphenotype variable, the genetic association was performed using the chi-square test, logistic regression or linear regression.

Results We have replicated the association to COG6 and SERPINB8 loci with Ps for the first time in a Caucasian population. We have identified, for the first time, an association of PsA with variation at IFIH1, DPP6 and COG6. Analyzing the association with other clinically relevant subphenotypes we have identified a strong association of LCE3D locus with the severity of cutaneous affection. We have also found a significant association of IL1RN gene with nail disease.

Conclusions Our findings show that common genetic variants associated to a complex phenotype like PsV influence PsA as well as different subphenotypes of high clinical relevance.

Disclosure of Interest None Declared

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