The Association Between Endometriosis and Polymorphisms in the Interleukin‐1 Family Genes in Korean Women

Sungwook Chun, Hoon Kim, Seung‐Yup Ku, Seung-Yup Ku, Chang Suk Suh, Seok Hyun Kim, Jung Gu Kim
American journal of reproductive immunology (New York, N.Y. : 1989) · 2012 · vol. 68(2) , pp. 154–163 · doi:10.1111/j.1600-0897.2012.01136.x · PMID:22509941 · W2046262574
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This study found an association between the IL-1R1 1498T>C polymorphism and early-stage endometriosis in Korean women, with lower serum sIL-1R2 levels observed in women with endometriosis.

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Abstract

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-1α -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-1α, 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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Interleukin 1 Receptor Antagonist Protein Polymorphism, Genetic Receptors, Interleukin-1 Type I Receptors, Interleukin-1 Type II Adult Case-Control Studies Disease Progression Endometriosis Endometriosis Endometriosis Female Genetic Association Studies Humans Interleukin 1 Receptor Antagonist Protein Interleukin 1 Receptor Antagonist Protein Korea Microsatellite Repeats Microsatellite Repeats Receptors, Interleukin-1 Type I

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