Genome-Wide Association Study of Clinical Phenotypes in Psoriatic Arthritis

Juan D. Cañete¹, Jose A Pinto-Tasende², Jordi Gratacós³, Rubén Queiro⁴, Carlos Alberto Montilla Morales⁵, Juan Carlos Torre-Alonso⁶, Jose Javier Perez Venegas⁷, Antonio Fernandez-Nebro⁸, Santiago Muñoz⁹, Carlos Gonzalez¹⁰, Daniel Roig¹¹, Pedro Zarco¹², Alba Erra¹³, Jesus Rodriguez¹⁴, Santos Castañeda¹⁵, Esteban Rubio-Romero¹⁶, Georgina Salvador¹⁷, Cesar Diaz-Torné¹⁸, Ricardo Blanco¹⁹, Alfredo Willisch²⁰, Jose Antonio Mosquera²¹, Paloma Vela²², Jesús Tornero²³, Simon Sanchez Fernandez²⁴, Hector Corominas²⁵, Julio Ramírez²⁶, Maria López-Lasanta²⁷, Mireia López²⁸, Raül Tortosa²⁹, Antonio Julià²⁹ and Sara Marsal³⁰, ¹Rheumatology Department, Hospital Clínic de Barcelona, Barcelona, Spain, ²Rheumatology Division, INIBIC-Complejo Hospitalario Universitario A Coruña (CHUAC), A Coruna, Spain, ³Rheumatology, Hospital de Sabadell, Sabadell, Spain, ⁴H Central de Asturias, Oviedo, Spain, ⁵Rheumatology, HOSPITAL CLÍNICO UNIVERSITARIO DE SALAMANCA, Salamanca, Spain, ⁶H Monte Naranco, Oviedo, Spain, ⁷Rheumatology, Hospital de Jerez de la Frontera, Jerez de la Frontera, Spain, ⁸Rheumatology, Hospital Universitario Carlos Haya, Malaga, Spain, ⁹Rheumatology, Hospital Infanta Sofia, Madrid, Spain, ¹⁰Servicio de Reumatología, Hospital Universitario Gregorio Marañón, MD, PhD, Madrid, Spain, ¹¹Rheumatology Service, Hospital Universitari de Bellvitge, Hospitalet de Llobregat- Barcelona, Spain, ¹²H Fundación Alcorcón, Alcorcón, Spain, ¹³CapiCAT group (Nailfold Capillaroscopy group from the Catalan Society for Rheumatology)., Catalonia, Spain, ¹⁴Rheumatology, Hospital Universitari de Bellvitge, Barcelona, Spain, ¹⁵Rheumatology, Hospital de la Princesa, IIS-IP, Madrid, Spain, ¹⁶Rheumatology, Rheumatology, Seville, Spain, ¹⁷Rheumatology Unit., Hospital Mutua de Terrassa. Barcelona, Barcelona, Spain, ¹⁸Rheumatology, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, ¹⁹Rheumatology, Hospital Universitario Marqués de Valdecilla. IDIVAL, Santander, Spain, ²⁰Complexo Hospitalario de Ourense, Ourense, Spain, ²¹Servicio de Reumatología, Complejo Hospitalario Hospital Provincial de Pontevedra, Pontevedra, Spain, ²²Dpt. Rheumatology, Hospital General Universitario Alicante, Alicante, Spain, ²³Rheumatology Department, Hospital Universitario Guadalajara, Guadalajara, Spain, ²⁴Rheumatology Department, Hospital General La Mancha Centro, Ciudad Real, Spain, ²⁵Rheumatology, Hospital Moises Broggi, Barcelona, Spain, ²⁶Rheumatology, Hospital Clínic, Barcelona, Spain, ²⁷Vall d'Hebron Hospital Research Institute, Barcelona, Spain, ²⁸Servicio de Reumatología, Hospital Universitario Vall d´Hebron, Barcelona, Spain, ²⁹Rheumatology Research Group, Vall d'Hebron Hospital Research Institute, Barcelona, Spain, ³⁰Rheumatology Research Unit, Vall d'Hebron Hospital, Barcelona, Spain

Meeting: 2016 ACR/ARHP Annual Meeting

Date of first publication: September 28, 2016

Keywords: Genetic architecture, GWAS, phenotypes and psoriatic arthritis

Session Information

Date: Tuesday, November 15, 2016

Title: Spondylarthropathies Psoriatic Arthritis – Pathogenesis, Etiology - Poster II

Session Type: ACR Poster Session C

Session Time: 9:00AM-11:00AM

Background/Purpose: Genome-wide association studies (GWAS) in patients and healthy controls have allowed the identification of multiple variants associated with disease risk in Psoriatic Arthritis (PsA). To date, however, there has been no GWAS for PsA phenotypes. 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 for the discovery stage. In each patient >600,000 single nucleotide polymorphisms (SNPs) were genotyped. All patients were Caucasian and of Spanish origin. GWAS were performed for clinical and biological phenotypes associated with joint disease, as well as skin disease related phenotypes. 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. These included association with axial disease pattern, peripheral disease pattern, bone proliferation, degree of radiological sacroileitis and the presence of syndesmophytes. Also, GWAS on cutaneous variables identified two regions associated with nail disease and skin disease severity. Using the replication cohort, the association between one locus and peripheral pattern of disease, and two loci associated with axial pattern were nominally validated.

Conclusion: To our knowledge, this is the GWAS of clinical phenotypes in PsA. New candidate loci associated with axial and peripheral disease have been identified.

Disclosure: J. D. Cañete, None; J. A. Pinto-Tasende, None; J. Gratacós, None; R. Queiro, None; C. A. Montilla Morales, None; J. C. Torre-Alonso, None; J. J. Perez Venegas, None; A. Fernandez-Nebro, None; S. Muñoz, None; C. Gonzalez, None; D. Roig, None; P. Zarco, None; A. Erra, None; J. Rodriguez, None; S. Castañeda, None; E. Rubio-Romero, None; G. Salvador, None; C. Diaz-Torné, None; R. Blanco, None; A. Willisch, None; J. A. Mosquera, None; P. Vela, None; J. Tornero, None; S. Sanchez Fernandez, None; H. Corominas, None; J. Ramírez, None; M. López-Lasanta, None; M. López, None; R. Tortosa, None; A. Julià, None; S. Marsal, None.

To cite this abstract in AMA style:

Cañete JD, Pinto-Tasende JA, Gratacós J, Queiro R, Montilla Morales CA, Torre-Alonso JC, Perez Venegas JJ, Fernandez-Nebro A, Muñoz S, Gonzalez C, Roig D, Zarco P, Erra A, Rodriguez J, Castañeda S, Rubio-Romero E, Salvador G, Diaz-Torné C, Blanco R, Willisch A, Mosquera JA, Vela P, Tornero J, Sanchez Fernandez S, Corominas H, Ramírez J, López-Lasanta M, López M, Tortosa R, Julià A, Marsal S. Genome-Wide Association Study of Clinical Phenotypes in Psoriatic Arthritis [abstract]. Arthritis Rheumatol. 2016; 68 (suppl 10). https://acrabstracts.org/abstract/genome-wide-association-study-of-clinical-phenotypes-in-psoriatic-arthritis/. Accessed .

« Back to 2016 ACR/ARHP Annual Meeting

ACR Meeting Abstracts - https://acrabstracts.org/abstract/genome-wide-association-study-of-clinical-phenotypes-in-psoriatic-arthritis/