title: Transforming growth factor-β1 gene polymorphisms in Korean women with endometriosis.
abstract: OBJECTIVE
  To investigate the association between endometriosis, transforming growth factor-β1 (TGFB1) gene polymorphisms, and serum TGF-β1 levels in Korean women.
  
  
  METHODS
  The -509C/T, 868T/C, 913G/C and 979G/A polymorphisms of the TGFB1 gene were analyzed in women with (n = 131) and without (n = 107) endometriosis using restriction fragment length polymorphism (RFLP) analysis. Serum TGF-β1 levels were measured by enzyme-linked immunosorbent assay (ELISA).
  
  
  RESULTS
  The 913G/C and 979G/A polymorphisms were not observed in the study participants. The genotype and allele distribution of the -509C/T and 868T/C polymorphisms in endometriosis were similar to those in controls. However, the -509T/868C (TC) haplotype allele was observed 4.55 times more frequently in early-stage endometriosis than in other haplotype alleles. Serum TGF-β1 levels were significantly higher in endometriosis than in controls. The single and haplotype genotype of -509C/T and 868T/C polymorphisms were not related with serum TGF-β1 levels.
  
  
  CONCLUSIONS
  The TC haplotype allele of TGFB1-509C/T and 868T/C polymorphisms may be associated with early-stage endometriosis in Korean women.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, Seoul National University, Korea.
authors.forename: Hye Jun
authors.initials: HJ
authors.lastname: Lee
authors.forename: Hoon
authors.initials: H
authors.lastname: Kim
authors.forename: Seung-Yup
authors.initials: SY
authors.lastname: Ku
authors.forename: Seok Hyun
authors.initials: SH
authors.lastname: Kim
authors.forename: Jung Gu
authors.initials: JG
authors.lastname: Kim
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D004715:Endometriosis / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D056910:Republic of Korea; D053773:Transforming Growth Factor beta1 / Q000097:blood / Q000235:genetics*
chemical_list: D053773:Transforming Growth Factor beta1