title: Association between endometriosis and polymorphisms in insulin-like growth factor binding protein genes in Korean women.
abstract: OBJECTIVE
  Genetic factors are known to be associated with the development and progression of endometriosis, but the genes related to endometriosis have not been defined. Insulin-like growth factor binding proteins (IGFBPs) are believed to be involved in the proliferation and apoptosis of cells that play an important role in the pathophysiologic mechanism of endometriosis. This study aimed to determine the association between endometriosis and polymorphisms of the IGFBP genes in Korean women.
  
  
  METHODS
  In a case-control study, the rs1995051, rs1065780 and c.759A>G single nucleotide polymorphisms (SNPs) in the IGFBP1 gene and the -672A>G, -202A>C and c.95C>G SNPs in the IGFBP3 gene were analyzed in 128 women with endometriosis and 108 normal control women.
  
  
  RESULTS
  The haplotype genotype composed of a combination of three IGFBP1 gene polymorphisms was not related to endometriosis, while the haplotype genotype of the IGFBP3 gene had a significant association with endometriosis. Women not carrying the AAG (-672A/-202A/c.95G) haplotype allele of three IGFBP3 gene polymorphisms have a 3.19-times higher risk of endometriosis compared with women with AAG homozygotes, and this trend was found in women with advanced endometriosis but not in women with early endometriosis.
  
  
  CONCLUSIONS
  The AAG haplotype allele of the -672A>G, -202A>C and c.95C>G polymorphisms in the IGFBP3 gene may be associated with advanced endometriosis in Korean women.
authors.affiliation: Department of Obstetrics and Gynecology, Incheon Medical Center, Incheon, Republic of Korea.
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: Young Min
authors.initials: YM
authors.lastname: Choi
authors.forename: Jung Gu
authors.initials: JG
authors.lastname: Kim
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D018970:Insulin-Like Growth Factor Binding Protein 1 / Q000235:genetics*; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D014930:Women
chemical_list: C032231:IGFBP1 protein, human; C515497:IGFBP3 protein, human; D018970:Insulin-Like Growth Factor Binding Protein 1; D018972:Insulin-Like Growth Factor Binding Protein 3