Association of Interleukin-10 Promoter Polymorphism and Endometriosis

Mads Riiskjær, Mads Riiskjaer, K Nielsen, Kaspar Nielsen, Rudi Steffensen, Christian Erikstrup, Axel Forman, Christina Kruse
American journal of reproductive immunology (New York, N.Y. : 1989) · 2010 · vol. 65(1) , pp. 13–19 · doi:10.1111/j.1600-0897.2010.00888.x · PMID:20618176 · W1915182555
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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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Condition tags

endometriosis

MeSH descriptors

Endometriosis Interleukin-10 Adult Case-Control Studies Endometriosis Endometriosis Female Gene Frequency Genotype Haplotypes Humans Interleukin-10 Interleukin-10 Male Middle Aged Polymorphism, Single Nucleotide Promoter Regions, Genetic Young Adult

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