title: The association between endometriosis and polymorphisms in the interleukin-1 family genes in Korean women.
abstract: OBJECTIVE
  To investigate the association between polymorphisms of the interleukin-1 (IL-1) family genes and endometriosis in Korean women.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The IL-1R1 1498T>C polymorphism is associated with early-stage endometriosis in Korean women.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Inje University, Haeundae Paik Hospital, Busan, Korea.
authors.forename: Sungwook
authors.initials: S
authors.lastname: Chun
authors.forename: Hoon
authors.initials: H
authors.lastname: Kim
authors.forename: Seung-Yup
authors.initials: SY
authors.lastname: Ku
authors.forename: Chang Suk
authors.initials: CS
authors.lastname: Suh
authors.forename: Seok Hyun
authors.initials: SH
authors.lastname: Kim
authors.forename: Jung Gu
authors.initials: JG
authors.lastname: Kim
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D018450:Disease Progression; D004715:Endometriosis / Q000175:diagnosis / Q000235:genetics / Q000276:immunology*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000097:blood / Q000235:genetics*; D007723:Korea; D018895:Microsatellite Repeats / Q000235:genetics; D011110:Polymorphism, Genetic; D053573:Receptors, Interleukin-1 Type I / Q000097:blood / Q000235:genetics*; D053574:Receptors, Interleukin-1 Type II / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: C508592:IL1R2 protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D053573:Receptors, Interleukin-1 Type I; D053574:Receptors, Interleukin-1 Type II