Association of Interleukin-10 Promoter Polymorphism and Endometriosis

Citation Riiskjaer M, Nielsen K, Steffensen R, Erikstrup C, Forman A, Kruse C. Association of Interleukin-10 Promoter Polymorphism and Endometriosis. Am J Reprod Immunol 2010 Problem 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. Method of Study 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. Results 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]. Conclusion 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.