Results
| PMID | 18930197 |
| Gene Name | IL10 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-10 (rs1800871) |
| Population size | 593 |
| Population details | 593 (196 cases with pathologically proved endometriosis, 397 disease-free women as control subjects) |
| Sex | Female |
| Associated genes | IL-10, IL-6, IL-1 beta, and cyclooxygenase-2 |
| Other associated phenotypes |
Endometriosis |
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Fertil Steril. 2009 Oct;92(4):1228-33. doi: 10.1016/j.fertnstert.2008.08.015. Juo, Suh-Hang Hank| Wu, Rita| Lin, Chang-Shen| Wu, Ming-Tsang| Lee, Jau-Nan| Tsai, Eing-Mei Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan. OBJECTIVE: To investigate the involvement of inflammation in the development of endometriosis. DESIGN: Case-control study to investigate the association between endometriosis and four inflammation-related genes: interleukin (IL)-6, IL-10, IL-1 beta, and cyclooxygenase-2. SETTING: University hospital. PATIENT(S): We had 196 cases with pathologically proved endometriosis and 397 disease-free women as control subjects. INTERVENTION(S): A total of 12 single nucleotide polymorphisms (SNPs) were selected for genotyping, including functional SNPs and common tagging SNPs. MAIN OUTCOME MEASURE(S): Logistic regression and haplotype analyses were performed to evaluate the genetic effect with adjustment for other covariates. RESULT(S): Genotypes at each SNP were in Hardy-Weinberg equilibrium in either case or control subjects, except for rs1800871 at IL-10 in the case subjects (P=.04). We found that the individuals carrying minor allele C of a functional promoter SNP rs1800871 at IL-10 was associated with a reduced risk by approximately twofold compared with the common TT genotype. The T allele was reported to have a lower gene expression level than the C allele, suggesting inadequate suppression of inflammation leading to endometriosis development. Haplotype analysis of the IL-10 gene did not yield a better result. Other genes were not associated with endometriosis. CONCLUSION(S): This study suggests that the functional promoter polymorphism at IL-10 may play a role in the development of endometriosis. Mesh Terms: Adult| Case-Control Studies| Endometriosis/*genetics| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| Interleukin-10/*genetics| Linkage Disequilibrium| Middle Aged| *Polymorphism, Single Nucleotide/genetics| *Promo |
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