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.
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 June 3, 2020.
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