Increased frequency of the PTPN22W* variant in primary Sjogren's Syndrome: Association with low type I IFN scores.
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.
Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Nikolaos I
NI
Vlachogiannis
Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Adrianos
A
Nezos
Department of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece; Joint Rheumatology Academic Program, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Athanasios G
AG
Tzioufas
Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Michael
M
Koutsilieris
Department of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece; Joint Rheumatology Academic Program, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Haralampos M
HM
Moutsopoulos
Department of Physiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece; Department of Pathophysiology, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece; Joint Rheumatology Academic Program, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece. Electronic address: kmauragan@med.uoa.gr.
Clio P
CP
Mavragani
D000328:Adult; D000368:Aged; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007370:Interferon Type I / Q000097:blood*; D008297:Male; D008875:Middle Aged; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*; D012859:Sjogren's Syndrome / Q000097:blood / Q000235:genetics* / Q000276:immunology
D007370:Interferon Type I; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
Autoimmunity; Gene polymorphisms; PTPN22; Sjogren's Syndrome; Type I Interferon