Results
| PMID | 22509941 |
| Gene Name | IL1B |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-1B (889C>T), IL-1 receptor antagonist (IL-1RA) 86-bp microsatellite, IL-1 receptor 1 (IL-1R1) ( 52C>A, 294C>T, 1498T>C, 1632A>G, IL-1R2 rs2072472 C>T and rs7561460 C>T) |
| Population size | 352 |
| Population details | 352 (138 women with endometriosis, 214 women without endometriosis) |
| Sex | Female |
| Associated genes | IL-1?, IL-1RA, IL-1R2 |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2012 Aug;68(2):154-63. doi: Chun, Sungwook| Kim, Hoon| Ku, Seung-Yup| Suh, Chang Suk| Kim, Seok Hyun| Kim, Jung Gu Department of Obstetrics and Gynecology, College of Medicine, Inje University, Haeundae Paik Hospital, Busan, Korea. PROBLEM: To investigate the association between polymorphisms of the interleukin-1 (IL-1) family genes and endometriosis in Korean women. METHOD OF STUDY: In this case-control study, the IL-1alpha -889C>T, IL-1 receptor antagonist (IL-1RA) 86-bp microsatellite, IL-1 receptor 1 (IL-1R1) 52C>A, 294C>T, 1498T>C, 1632A>G, IL-1R2 rs2072472 C>T and rs7561460 C>T polymorphisms were analyzed in women with (n = 138) and without (n = 214) endometriosis using restriction fragment length polymorphism (RFLP) analysis, TaqMan assay, or DNA sequencing. Serum IL-1alpha, soluble IL-1RA (sIL-1RA), and sIL-1R2 levels were measured by enzyme-linked immunosorbent assay (ELISA). RESULTS: Among the polymorphisms measured, the 1498T>C polymorphisms in the IL-1R1 gene were found to be related with early-stage endometriosis but not with advanced-stage endometriosis. The genotypes with at least one T allele (CT + TT) were less frequently observed in early-stage endometriosis compared with normal controls (OR = 0.44, 95% CI = 0.22-0.87, P = 0.02). Serum sIL-1R2 levels were significantly lower (P < 0.01) in women with endometriosis than in normal controls, whereas no difference in serum sIL-1RA levels between these two groups was noted. The single and haplotype genotypes of the IL-1R2 and IL-1RA microsatellite polymorphisms were not related with these serum levels. CONCLUSION: The IL-1R1 1498T>C polymorphism is associated with early-stage endometriosis in Korean women. Mesh Terms: Adult| Case-Control Studies| Disease Progression| Endometriosis/diagnosis/genetics/*immunology| Female| Genetic Association Studies| Humans| Interleukin 1 Receptor Antagonist Protein/blood/*genetics| Korea| Microsatellite Repeats/genetics| *Poly |
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