title: Possible involvement of the E-cadherin gene in genetic susceptibility to endometriosis.
abstract: BACKGROUND
  Endometriotic cells display invasive characteristics, despite their benign histological appearance. Recently, the epithelial-mesenchymal transition, in which epithelial cells acquire mesenchymal and migratory properties, has attracted attention as a mechanism of tumor invasion. We aimed to investigate the association between endometriosis and polymorphisms of the E-cadherin gene, a central player in the epithelial-mesenchymal transition, in Japanese women.
  
  
  METHODS
  Twelve single-nucleotide polymorphisms (SNPs) in the E-cadherin gene were identified by real-time polymerase chain reaction using a TaqMan assay in 511 women with endometriosis (the majority in Stages III and IV) and 498 healthy controls.
  
  
  RESULTS
  Allele frequency analysis indicated that there was a marginally higher frequency of the rs4783689 C allele in women with endometriosis compared with controls (corrected P = 0.007; odds ratio = 1.37; 95% confidence interval, 1.14-1.64). No significant associations with endometriosis were found for the other 11 SNPs.
  
  
  CONCLUSIONS
  Although this study was limited by sample size, the E-cadherin gene polymorphism rs4783689 was marginally associated with endometriosis in the Japanese population, suggesting that E-cadherin might be involved in genetic susceptibility to endometriosis.
authors.affiliation: Department of Obstetrics and Gynecology, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Yoshida
authors.forename: Kosuke
authors.initials: K
authors.lastname: Yoshihara
authors.forename: Sosuke
authors.initials: S
authors.lastname: Adachi
authors.forename: Kazufumi
authors.initials: K
authors.lastname: Haino
authors.forename: Koji
authors.initials: K
authors.lastname: Nishino
authors.forename: Masayuki
authors.initials: M
authors.lastname: Yamaguchi
authors.forename: Nobumichi
authors.initials: N
authors.lastname: Nishikawa
authors.forename: Katsunori
authors.initials: K
authors.lastname: Kashima
authors.forename: Tetsuro
authors.initials: T
authors.lastname: Yahata
authors.forename: Hideaki
authors.initials: H
authors.lastname: Masuzaki
authors.forename: Hidetaka
authors.initials: H
authors.lastname: Katabuchi
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Ikuma
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Suginami
authors.forename: Kenichi
authors.initials: K
authors.lastname: Tanaka
mesh_terms: D000328:Adult; D015820:Cadherins / Q000235:genetics*; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007564:Japan; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: D015820:Cadherins