ACR Meeting Abstracts

ACR Meeting Abstracts

Abstract Number: 998

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. Cañete1, Jose Luis Fernandez-Sueiro2, Raimon Sanmarti3, Jesus Rodriguez4, Jordi Gratacós5, Rubén Queiro6, Juan Carlos Torre-Alonso7, Jose Perez Venegas8, Santiago Muñoz-Fernandez9, Carlos Gonzalez10, Carlos Montilla11, Daniel Roig12, Alba Erra13, Isabel Acosta14, Antonio Fernández-Nebro15, Pedro Zarco16, Arnald Alonso17, María América López-Lasanta17, Antonio Julià17, Raül Tortosa17 and Sara Marsal18, 1Unitat d'Artritis, Servei de Reumatologia, Hospital Clínic de Barcelona,, Barcelona, Spain, 2Rheumatology Service, Complejo Hospitalario Universitario La Coruña, La Coruña, Spain, 3Rheumatology Service, Hospital Clínic of Barcelona, Barcelona, Spain, 4Rheumatology, Hospital Universitari de Bellvitge, Barcelona, Spain, 5Rheumatology Service, Hospital Parc Taulí, Sabadell (Barcelona), 6Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, 7Rheumatology Service, Hospital Monte Naranco, Oviedo, Spain, 8Rheumatology Service, Hospital del SAS de Jerez de la Frontera, Jerez De La Frontera, Spain, 9Rheumatology Service, Hospital Infanta Sofía, Madrid, Spain, 10Rheumatology Service, Hospital Gregorio Marañon, Madrid, Spain, 11Unit Rheumatology, Hospital Universitario de Salamanca, Salamanca, Spain, 12Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, 13Rheumatology Service, Hospital San Rafael, Barcelona, Spain, 14Rheumatology Service, Hospital Universitari Vall d'Hebron, Barcelona, Spain, 15Rheumatology Service, Hospital Regional Universitario Carlos Haya, Málaga, Spain, 16Rheumatology Service, Fundación Hospital Alcorcon, Alcorcon, Madrid, Spain, 17Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, 18Rheumatology, University Hospital Vall d'Hebron, Barcelona, Spain

Meeting: 2012 ACR/ARHP Annual Meeting

Keywords: ,

Session Information

Title: Genetics and Genomics of Rheumatic Diseases

Session Type: Abstract Submissions (ACR)

Background/Purpose: 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.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). For each locus, 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 (P < 2e-5). We have also found a significant association of IL1RN gene with nail disease (P < 3e-4).

Conclusion: 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:

J. D. Cañete,
None;

J. L. Fernandez-Sueiro,
None;

R. Sanmarti,
None;

J. Rodriguez,
None;

J. Gratacós,
None;

R. Queiro,
None;

J. C. Torre-Alonso,
None;

J. Perez Venegas,
None;

S. Muñoz-Fernandez,
None;

C. Gonzalez,
None;

C. Montilla,
None;

D. Roig,
None;

A. Erra,
None;

I. Acosta,
None;

A. Fernández-Nebro,
None;

P. Zarco,
None;

A. Alonso,
None;

M. A. López-Lasanta,
None;

A. Julià,
None;

R. Tortosa,
None;

S. Marsal,
None.

« Back to 2012 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/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/