Results
| PMID | 17178764 |
| Gene Name | IL10 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-10 (-1082, -819 and -592 site) |
| Sex | Female |
| Associated genes | IL-10 |
| Other associated phenotypes |
Endometriosis |
|
Mol Hum Reprod. 2007 Feb;13(2):135-40. Epub 2006 Dec 18. Zhang, X| Hei, P| Deng, L| Lin, J Department of Gynecology, Women's Hospital, Zhejiang University School of Medicine, Hangzhou Zhejiang, PR China. Although associations of interleukin-10 (IL-10) gene promoter polymorphisms and their protein production with endometriosis risk have been reported, the correlations remain controversial. The objective of this study was to determine IL-10 gene promoter polymorphisms at -1082, -819 and -592 sites and their protein production in peritoneal fluid (PF) in patients with and without endometriosis. IL-10 gene promoter polymorphisms at -1082 site were detected by amplification refractory mutation system (ARMS)-PCR and that at -819 and -592 sites was genotyped by restriction fragment length polymorphism (RFLP)-PCR. Protein levels of IL-10 in PF were measured by enzyme-linked immunosorbent assay (ELISA). There were no significant differences in the genotype and allele frequencies of IL-10 gene promoter polymorphisms at position -1082 between the endometriosis and the control groups. However, the frequency of -819 or -592 C alleles was significantly increased in patients with endometriosis compared with controls. The protein levels of IL-10 in PF were statistically higher in the endometriosis group than in the control group. Moreover, the polymorphisms at -1082, -819 and -592 sites were associated with protein levels of IL-10 in PF in the endometriosis group while in the control group only the polymorphisms at position -1082 correlated with protein levels. Increased frequency of -819 or -592 C allele and increased protein production of IL-10 in PF in patients with endometriosis compared with controls and correlations of polymorphisms at -819 and -592 sites with protein levels of IL-10 in PF in patients with endometriosis may suggest that polymorphisms at -819 and -592 sites and their protein production are associated with endometriosis risk. Mesh Terms: Ascitic Fluid/*metabolism/pathology| Disease Progression| Endometriosis/*genetics/*metabolism/pathology| Female| Gene Frequency| Haplotypes| Humans| Interleukin-10/*genetics/*metabolism| Polymorphism, Single Nucleotide| *Promoter Regions, Genetic |
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