Mediterr J Rheumatol 2016;27(3):132-4
Genetics in Sjögren’s syndrome-related lymphomagenesis
Authors Information

Departments of Physiology and Pathophysiology, National and Kapodistrian University of Athens, Greece

Primary Sjögren’s Syndrome (pSS) is a common chronic autoimmune disease affecting 0.5-1% of the population characterized by the lymphocytic infiltration of exocrine glands. Patients suffering from pSS have a 13-fold higher risk of developing non-Hodgkin’s lymphoma (NHL) compared to the general population. Although the pathogenetic events leading from benign autoimmunity to malignancy remain unknown, several mutations have been suggested as possible drivers of this process. The aim of the current research proposal isto investigate the putative role of genetic factors in the pathogenesis of SS-related lymphoproliferation. Blood samples from the Biobank in the Department of Experimental Physiology of the Medical School of the University of Athens - including pSS patients with or without NHL - from rheumatoid arthritis individuals and healthy controls would be analyzed for polymorphisms of methylation enzyme MTHFR, B-cell activating factor (BAFF) as well as a mutation of its receptor BAFF-R His159Tyr, and polymorphisms of the DNA repairing enzyme TREX-1 and the NF-κB pathway inhibitor TNFAIP3/A20 with real time polymeric chain reaction (PCR). The mutation of the LILRA3 immunoglobulin, previously associated with both autoimmunity and lymphoma, will be also evaluated by a PCR-based assay. The results would be compared across the different sub-populations in order to determine whether any particular genetic factors and/or mutations can act as prognostic markers for pSS-related lymphoproliferation and propose new treatment approaches (i.e. targeted therapies) that may benefit these patients.