Interleukin (IL)-18, an important mediator of innate and adaptive immunity, plays multiple roles in chronic inflammation, in autoimmune diseases, in a variety of cancers and in number of infectious diseases. IL-18 promoter polymorphisms have been also noted associated with various inflammatory diseases. We investigated the association of IL-18 promoter polymorphisms (-656T/G, -607A/C and -137C/G) with systemic lupus erythematosus (SLE) in Taiwan Chinese patients and controls. Six haplotypes (hts) were identified from the three promoter polymorphisms. The genotype distribution of the ht1 (GCC), ht2 (TAC), ht4 (GAC) and ht5 (TCC) were different in patients and controls (P<0.002). Moreover, the haplotype and genotype frequencies of ht1 were significantly increased in patients with discoid rash (P=0.045, odds ratio (OR): 2.01, 95% confidence interval (CI): 1.01–4.00; P=0.027, OR: 5.13, 95% CI: 1.41–18.68). In addition, the homozygous genotype ht1/ht1 was significant increased in patients with serositis (P=0.015, OR: 9.78, 95% CI: 1.55–61.73). These observations suggest that the three promoter polymorphisms contribute to the genetic background of SLE pathogenesis.
