Association of interleukin--10 promoter polymorphism and endometriosis
Observational
OA: closed
CC0
⤵ 11 in-corpus citations
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This study found that the ACC/ACC genotype in the IL-10 promoter region, associated with low IL-10 production, was significantly more frequent in endometriosis patients than in controls.
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Abstract
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.
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Cited by (11)
- Genetic variants of IL-10, TGFβ, FGF1, ESR1, MMP1 and WNT4 genes and their association with endometriosis in Iranian women 2023
- Association between polymorphisms of cytokine genes and endometriosis: A comprehensive systematic review and meta-analysis 2023
- Macrophage Immune Memory Controls Endometriosis in Mice and Humans 2020
- Polymorphisms of Cytokine Genes in Genital Endometriosis 2019
- The association between interleukin-10 (IL-10) -592C/A, -819T/C, -1082G/A promoter polymorphisms and endometriosis 2017
- A current view of the role of epigenetic changes in the aetiopathogenesis of endometriosis 2015
- Understanding the role of epigenomic, genomic and genetic alterations in the development of endometriosis (review) 2014
- TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population 2014
- Genetic Polymorphisms Associated with Endometriosis in Pakistani Women 2013
- Association between interleukin-10 promoter polymorphisms and endometriosis: a meta-analysis 2012
- Insights into Assessing the Genetics of Endometriosis 2012
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- europepmc
- last seen: 2026-10-19T06:17:24.038039+00:00
- openalex
- last seen: 2026-06-10T17:14:06.276822+00:00
- pubmed
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- last seen: 2026-08-15T06:29:46.044917+00:00
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