PSORS2 markers are not associated with psoriatic arthritis in the Italian population.

Psoriatic arthritis (PsA) is a chronic inflammatory arthropathy characterized by the association of arthritis and psoriasis (Ps). The precise etiology of PsA is unknown, but epidemiological studies supported the existence of a genetic component for the disease. Here we report an association study on a large PsA Italian cohort for DNA variants recently reported as associated alleles at PSORS2 (17q25) in Ps cohorts from the US. We focused on discovering a possible involvement of PSORS2 associated SNPs in pathogenesis of PsA. We selected two SNPs (rs7420, rs734232) within the proximal peak and two SNPs (rs869190 and rs1561946) within distal peak of PSORS2. Our results ruled out PSORS2 alleles as susceptibility factors in arthritis psoriatic patients of Italian origin and suggested that previous linkage signal reported for chromosome 17q25 should be independent on the presence of PsA.

Reduced circulating natural killer T cells and gamma/delta T cells in patients with systemic sclerosis.

OBJECTIVE: To evaluate peripheral blood mononuclear cells (PBMC) expressing natural killer (NK) cell surface markers (CD16 and CD56, in both CD3- and CD3+ cells) and g/d T cell receptors (TCR) involved in non-MHC-restricted cytotoxicity, assessing their possible relationship with clinical and laboratory variables in patients with systemic sclerosis (SSc). METHODS: We submitted 50 patients with SSc to detailed clinical and laboratory assessment, and also performed PBMC subset analyses by direct dual immunofluorescence and flow cytometry. RESULTS: No statistically significant differences were found in the percentages or the absolute numbers of total lymphocytes, of B cells, and of CD4+ T cells. The absolute number of CD8+ cells was lower (p < 0.03), while HLA-DR+ elements were higher in frequency (p < 0.03) in SSc patients than in healthy controls. SSc patients had lower values (both percentage and absolute number) of NK-T cells (p < 0.01 and p < 0.003, respectively) and of T cells expressing g/d TCR (p < 0.01 and p < 0.005, respectively); whereas NK cells were marginally but not significantly decreased. The absolute number of NK-T cells showed an inverse correlation to erythrocyte sedimentation rate values (p < 0.03; rs = -0.306), percentage of g-globulins (p < 0.01; rs = -0.353), and serum concentrations of IgG (p < 0.02; rs = -0.334). CONCLUSION: Impairment of NK-T cells and of T cells expressing g/d TCR may lead to downregulation of normal immune response, and seems to be important for immunological and inflammatory aspects of SSc.

Psoriatic arthritis and CARD15 gene polymorphisms: no evidence for association in the Italian population.

Psoriatic arthritis (PsA) has been defined as an inflammatory arthritis associated with psoriasis that may affect as many as 30% of psoriasis patients. Epidemiological study reported strong familial clustering of PsA although the precise etiology of PsA is poorly understood. Recently, a genomewide linkage scan in PsA revealed a LOD score of 2.17 on chromosome 16q and provided strong evidence for a paternal imprinting effect. That region surrounds a psoriasis susceptibility locus including the CARD15 gene which has convincingly been shown to confer susceptibility to Crohn's disease. The existence of a common susceptibility gene for psoriasis/PsA and Crohn disease was recently demonstrated by evidence of association of CARD15 polymorphisms with PsA. To confirm these results in an independent population, we analyzed a data set of 193 Italian PsA patients and 150 controls for CARD15 polymorphisms (R702W, G908R and leu1007finsC) previously demonstrated associated with PsA. Here we report no evidence for association in the examined population for CARD15 polymorphisms, suggesting that the positive association previously reported in a genetically isolated population was the result of a linkage disequilibrium due to a founder effect.