496 STAT3 polymorphisms and IL-6 polymorphism are associated with the risk of basal cell carcinoma in patients from northern Poland

Abstract

Basal cell carcinoma (BCC) environment consists of stromal and inflammatory cells which produce variety of cytokines, chemokines and growth factors that may affect the tumor behavior. One of the cytokines suggested to be involved in the pathogenesis of BCC is IL-6 - the upstream element of IL-6/JAK/STAT3 pathway. In the present study rs1800795 (-174 G/C) IL-6 gene polymorphism and STAT3 rs2293152 (intron 11, C/G) and rs4796793 (–1697, C/G) polymorphisms were assessed in relation to the BCC risk and clinical course. Additionally, IL-6 serum level was assessed in relation to IL-6 genotype and clinical variables. The study included 254 unrelated BCC patients (mean age 70.39±11.43) and 198 healthy, unrelated age- and sex-matched volunteers. We have found that the presence of C allele in rs1800795 IL-6 gene polymorphism was associated with increased risk of BCC (aOR: 1.86; 95% CI=1.22-2.84; p=0.004). The presence of CC genotype in STAT3 rs2293152 polymorphism was associated with increased BCC risk in recessive model analysis (aOR=3.94; 95% CI: 1.59-9.77; p=0.003). In contrast, the presence of GC genotype in overdominant model was associated with decreased risk of BCC (aOR=0.24; 95% CI:0.12-0.49; p<0.0001). The presence of C allele in STAT3 rs2293152 polymorphism was associated with increased risk of BCC (aOR: 1.31; 95% CI:1.01-1.69; p=0.04). The presence of GG genotype in STAT3 rs4796793 polymorphism was associated with increased BCC risk in recessive model analysis (aOR=3.66; 95% CI:1.33-10.10; p=0.012). The presence of G allele in STAT3 rs4796793 polymorphism was associated with increased risk of BCC (aOR: 1.59; 95% CI: 1.01-2.49; p=0.04). IL-6 serum level positively correlated with the tumor size.