AB0007 STAT4 RS7574865 G/T POLYMORPHISM AS MARKER OF PREDISPOSITION TO SYSTEMIC LUPUS ERYTHEMATOSUS WITH JUVENILE ONSET

Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with significant genetic predisposition. Recent studies have identified STAT4 (signal transducers and transcription activators 4) as susceptibility gene for SLE. Objectives: To investigate the hypothesis of association rs7574865 G/T polymorphism predisposition to SLE in children its relationship some manifestations. Methods: The case-control pilot study included 143 (39 103 healthy unrelated volunteers control group). Diagnosis was based on 2012 SLICC criteria. investigated using allele-specific real-time polymerase chain reaction (RT-PCR). Results: group pts consisted 29 girls 10 boys, an average age 11.8±3.7 years (from 3 17 years) duration 4.1±2.4 years. 79.5% had acute cutaneous at onset, 46.1% - nonscarring alopecia, 71.8% arthritis, 23.1% oral nasal ulcers, serositis, 43.6% renal involvement, 35.9% –neuropsychiatric disorders. Leucopenia/lymphopenia found pts, thrombocytopenia – 23,1%. ANA were detected 100% anti-dsDNA 79.5%, anti-Sm 31.6%, antiphospholipid antibodies 7,3%, hypocomplementemia 61.5%, positive direct Coombs test 35.9 %. Macrophage activation syndrome onset documented 15.4 % pts. distribution genotypes showed no deviations from Hardy-Weinberg equilibrium. genotype frequencies among statistically differences compared (χ2=12.95, p=0.0015): GG-30.8% 63.1% (p=0.001), GT-56.4% 33.0% (p=0.018), TT-12.8% 3.9% (p=0.114), GT+TT 69.2% 36.9% (p=0.0005). frequency mutant STAT 4 allele T (polymorphism), significantly higher than (41% 20.4%, respectively; p=0.0007). We clinical, laboratory, immunological disorders SLE: arthritis (OR 3.9, p=0.0002), 2.47, p=0.003), alopecia 3.12, p=0.002), involvement 2.42, p=0.022), leucopenia 2.72, 4.88, 2.82, p=0.0006), 2.34, p=0.012), 3.38, p=0.002). Conclusion: Our confirmed that associated risk Disclosure Interests: None declared