Polymorphisms of Cytokine Genes in Genital Endometriosis

Links between polymorphisms in cytokine genes and the development of genital endometriosis (GE) in women of reproductive age, its clinical manifestations, stages of progression, and efficacy of combined treatment were analyzed. Polymorphic variants of cytokine genes were identified by analysis of restriction fragment length polymorphisms (RFLP). Carriership of not only individual cytokine gene polymorphisms, i.e., the C-511T polymorphism of the IL1B gene (T allele), the T-330G polymorphism of the IL2 gene (G allele), the C-590T polymorphism of the IL4 gene (T allele), the G-174C polymorphism of the IL6 gene (C allele), the C-592A polymorphism of the IL10 gene (A allele and CA and AA genotypes), the G-308A polymorphism of the TNFA gene (A allele and AA genotype), and the C-590T polymorphism of the TGFB (T allele and CT genotype) gene, but also their combination, i.e., IL2GG/IL4CC/IL10CC/TNFAGG, was found to predispose to the development of GE. Carriership of the TT genotype of the IL1B C-511T polymorphism was found to predispose to the development of pelvic pain in GE and GE stages III–IV. Infertility in GE and the efficacy of its hormonal therapy were associated with carriership not of individual cytokine gene polymorphisms but with their combinations – IL2TT/IL4CC/IL10CC/TNFAGG and IL1CT/IL4CC/IL6GG/ IL10CC/TGFBCC, respectively.