title: Tumor necrosis factor (TNF)-TNF receptor gene polymorphisms and their serum levels in Korean women with endometriosis.
abstract: OBJECTIVE
  The aim of this study was to investigate the relationship between the polymorphisms of the tumor necrosis factor-alpha (TNT-alpha) and TNF receptor (TNFR) genes and serum levels of TNF-alpha and its soluble receptor (sTNFR) in Korean women with endometriosis.
  
  
  METHODS
  The TNF-alpha C(-857)T, C(-863)A and T(-1031)C, and TNFR1 A(36)G. TNFR2 T(676)G, A(1663)G, T(1668)G and C(1690)T polymorphisms, and serum levels of TNF-alpha, sTNFR1, and sTNFR2 were analyzed in women with (n = 105) and without endometriosis (n = 101).
  
  
  RESULTS
  Serum sTNFR1 and sTNFR2 levels were significantly higher in women with endometriosis than in those without endometriosis, whereas no difference in serum TNT-alpha level was noted. Single polymorphisms of TNT-alpha and TNFR genes were not significantly different between the two groups. The frequencies of the TNF-alpha T/C/C haplotype allele and the TNFR2 G/G/T haplotype allele were significantly decreased in women with endometriosis compared to women without endometriosis. Women carrying at least one copy of the TNFR2 T/G/T and /or G/G/C haplotype allele had an approximately two times higher risk of endometriosis than women without these haplotype alleles.
  
  
  CONCLUSIONS
  The haplotype alleles of the TNT-alpha and TNFR2 gene polymorphisms are genetic factors associated with endometriosis, and circulating sTNFR rather than TNT-alpha, may be involved in the development of endometriosis in Korean women.
authors.affiliation: Department of Obstetrics and Gynecology, Seoul National University, College of Medicine, Seoul, Korea.
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Chae
authors.forename: Hoon
authors.initials: H
authors.lastname: Kim
authors.forename: Byung Chul
authors.initials: BC
authors.lastname: Jee
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; D000483:Alleles; D004715:Endometriosis / Q000097:blood* / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007723:Korea / Q000453:epidemiology; D011110:Polymorphism, Genetic; D018124:Receptors, Tumor Necrosis Factor / Q000097:blood* / Q000235:genetics*; D014409:Tumor Necrosis Factor-alpha / Q000097:blood* / Q000235:genetics*; D055815:Young Adult
chemical_list: D018124:Receptors, Tumor Necrosis Factor; D014409:Tumor Necrosis Factor-alpha