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.

J. D. Cañete ^1,*J. M. Hernanz ²E. Fonseca ³C. Ferrandiz ⁴P. Unamuno ⁵L. Puig ⁶J. L. Fernandez-Sueiro ³R. Sanmartí ⁷J. Rodriguez ⁸J. Gratacós ⁹E. Dauden ¹⁰J. L. Sánchez-Carazo ¹¹J. L. López-Estebaranz ¹²D. Moreno ¹³R. Queiró ¹⁴C. Ferrandiz ¹⁵J. C. Torre-Alonso ¹⁶J. J. Pérez-Venegas ¹⁷F. Vanaclocha ¹⁸E. Herrera ¹⁹S. Muñoz-Fernández ²⁰C. González ²D. Roig ²¹A. Erra ²²I. Acosta ²³A. Fernandez-Nebro ²⁴P. Zarco ¹²A. Alonso ²⁵M. López-Lasanta ²⁵A. Julià ²⁵R. Tortosa ²⁵S. Marsal ²⁵

¹Hospital Clinic i Provincial de Barcelona, Barcelona, ²Hospital Universitario Gregorio Marañón, Madrid, ³Complejo Hospitalario Juan Canalejo, A Coruña, ⁴Hospital Universitari Germans Trias i Pujol, Badalona, ⁵Hospital Universitario de Salamanca, Salamanca, ⁶Hospital de la Santa Creu i Sant Pau, ⁷Hospital Clinic de Barcelona, ⁸Hospital Universitari de Bellvitge, Barcelona, ⁹Hospital Parc Taulí, Sabadell, Barcelona, ¹⁰Hospital Universitario La Princesa, Madrid, ¹¹Hospital General Universitario de Valencia, Valencia, ¹²Hospital Universitario Fundación Alcorcón, Madrid, ¹³Hospital Universitario Virgen Macarena, Sevilla, ¹⁴Hospital Universitario Central de Asturias, Oviedo, ¹⁵Hospital Virgen de la Vega, Salamanca, ¹⁶Hospital Monte Naranco, Oviedo, ¹⁷Hospital de Jerez de la Frontera, Cádiz, ¹⁸Hospital Universitario 12 de Octubre, Madrid, ¹⁹Hospital Universitario Virgen de la Victoria, Málaga, ²⁰Hospital Universitario Infanta Sofía,, Madrid, ²¹Centre d'Atenció Especialitzada de Cornellà, ²²Hospital Sant Rafael, ²³Hospital Universitario Vall Hebron, Barcelona, ²⁴Hospital Regional Universitario Carlos Haya, Málaga, ²⁵Rheumatology Research Group, Vall Hebron Hospital Research Institute, Barcelona, Spain

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