Identification of diagnostic and prognostic biomarkers in spondyloarthritis by applying the polygenic risk

Psoriatic arthritis (PsA) refers to an inflammatory disorder that affects numerous organs, including the skin and joints. The course of this disease is variable and unpredictable, ranging from mild and non-destructive joint involvement to a severe, debilitating, and erosive arthropathy. The etiopathogenic mechanisms for the development of PsA are not completely understood, but there is strong evidence that support a relevant genetic component.
This proposal raises a genome-wide association study, including 3.500 PsA cases, 1.500 psoriasis cases and 13.000 unaffected controls, the largest sample size so far. A polygenic risk score, or PRS, will be constructed to identify individuals at high or low risk for PsA. Moreover, the analytical depth of a mass spectrometry analysis in a subset of PsA, together with supporting genome-wide transcriptomics, will allow the identification of genetic factors associated with the prognosis of PsA. We will determine in a robust mode the genetic pathways altered and the genetic signature small-scale with greater ability to discriminate between molecular and clinical profiles. The expected results will permit a more effective and efficient clinical management of patients with PsA.