Association of interleukin--10 promoter polymorphism and endometriosis

inflammatory processes are believed to play an important role in the pathogenesis of endometriosis. Interleukin-10 (IL-10) is an important immunoregulatory cytokine. The biological actions are mainly inhibitory including inactivation of macrophages and inhibition of pro-inflammatory cytokines. Twin and family studies have shown that between 50 and 75% of the observed variability of IL-10 secretion was explained by genetic factors. Several single nucleotide polymorphisms (SNPs) in the promoter region of IL-10 have been described, but the most investigated are located at positions −1082, −819 and −592 of the transcriptional start site.

three SNPs in the promoter region of IL-10 (−1082)G>A, (−819)C>T and (−592)C>A were examined in 100 Danish patients with endometriosis and 358 healthy Danish blood donors, and haplotype associations were tested.

we observed no strong single IL-10 marker effects and no single haplotype showed significant association. However, the ACC/ACC genotype showed a significant association because this genotype was significantly higher among patients with endometriosis than in healthy controls [OR = 3.55 (CI = 1.42–18.92); P = 0.006].

our results suggest that the IL-10 ACC/ACC genotype, which is known to be a ‘low-producer’ of IL-10, is associated with endometriosis.