Results
| PMID | 20618176 |
| Gene Name | IL10 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-10 (1082(G>A), 819(C>T) and 592(C>A)) |
| Population size | 458 |
| Population details | 458 (100 Danish patients with endometriosis, 358 healthy Danish blood donors) |
| Sex | Female |
| Associated genes | IL-10 |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2011 Jan;65(1):13-9. doi: 10.1111/j.1600-0897.2010.00888.x. Riiskjaer, Mads| Nielsen, Kaspar| Steffensen, Rudi| Erikstrup, Christian| Forman, Axel| Kruse, Christina Departmetn of Obstetrics and Gynaecology, Aarhus University Hospital, Skejby, Denmark. riiskjaer@dadlnet.dk 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. Mesh Terms: Adult| Case-Control Studies| Endometriosis/blood/*genetics| Female| Gene Frequency| Genotype| Haplotypes| Humans| Interleukin-10/blood/*genetics| Male| Middle Aged| Polymorphism, Single Nucleotide| Promoter Regions, Genetic| Young Adult|DA 20 |
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