Polymorphisms of Cytokine Genes in Genital Endometriosis

In: Neuroscience and Behavioral Physiology · 2019 · vol. 49(8) , pp. 962–971 · doi:10.1007/s11055-019-00825-w · W2991276832
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Specific cytokine gene polymorphisms and their combinations predispose to genital endometriosis development, pelvic pain, and infertility, influencing hormonal therapy efficacy.

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This study analyzed whether polymorphisms in cytokine genes are associated with the development of genital endometriosis (GE), its clinical manifestations, disease stage progression, and hormonal treatment efficacy in women of reproductive age using restriction fragment length polymorphism (RFLP) genotyping. Carriership of specific single cytokine variants (including IL1B C-511T, IL2 T-330G, IL4 C-590T, IL6 G-174C, IL10 C-592A, TNFA G-308A, and TGF-β promoter variants) and, more notably, combinations of these polymorphisms were found to predispose to GE; pelvic pain and stages III–IV were associated with the IL1B TT genotype, while infertility and hormonal therapy efficacy were linked to particular multi-gene genotype combinations. The paper’s caveat is that the findings are based on these genetic associations identified via RFLP, and it does not detail broader methodological controls or confirm functional mechanisms for the polymorphisms. This paper is centrally about endometriosis — it tests cytokine gene polymorphisms and their combinations for susceptibility, symptom patterns, stage association, and hormonal therapy efficacy in genital endometriosis.

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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. 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Neurosci Behav Physi 49, 962–971 (2019). https://doi.org/10.1007/s11055-019-00825-w Received: Revised: Published: Version of record: Issue date: DOI: https://doi.org/10.1007/s11055-019-00825-w

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