Increased frequency of the PTPN22W* variant in primary Sjogren's Syndrome: Association with low type I IFN scores

Publication date: Available online 1 November 2016
Source:Clinical Immunology
Author(s): Nikolaos I. Vlachogiannis, Adrianos Nezos, Athanasios G. Tzioufas, Michael Koutsilieris, Haralampos M. Moutsopoulos, Clio P. Mavragani
Recent data suggest the association of the autoimmune gene variant PTPN22W* with dampened type I Interferon (IFN) responses, seen in a subset of primary Sjogren's Syndrome (pSS) patients. We sought to explore the potential contribution of PTPN22W* in this setting. PTPN22W* was identified in DNA samples derived from 352 pSS patients and 482 healthy controls (HC). Type I IFN score was determined in available peripheral blood cDNA of 164 pSS patients by Real-Time PCR. Increased prevalence of the PTPN22W* variant was detected in pSS patients compared to HC [9.7% vs 5.0%, p-value: 0.02]. Of interest, only the low but not the high type I IFN pSS subgroup displayed higher PTPN22W* rates compared to HC (12.2% vs 5.0%, p-value: 0.03). PTPN22W* risk variant increases susceptibility for pSS, particularly the low type I IFN subset implying the presence of distinct genetic backgrounds among low and high type I IFN autoimmune subgroups.



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