title: Synergistic effect of interleukin-6 promoter (IL6 -634C/G) and intercellular adhesion molecule-1 (ICAM-1 469K/E) gene polymorphisms on the risk of endometriosis in Japanese women.
abstract: OBJECTIVE
  Endometriosis is an immune-related, chronic inflammatory disease with a polygenic predisposition. The aim of this study was to investigate whether the interleukin-6 (IL-6) gene promoter region polymorphism (-634C/G) and the intercellular adhesion molecule-1 (ICAM-1) gene 469K/E polymorphism are responsible in part for the genetic susceptibility to endometriosis.
  
  
  METHODS
  The IL-6 -634C/G and ICAM-1 469K/E genotypes were determined in 202 patients with endometriosis and 236 control women by polymerase chain reaction-restriction fragment length polymorphism.
  
  
  RESULTS
  There were no differences in the IL-6 -634C/G or the ICAM-1 469K/E genotypes and allele frequencies between control women and endometriosis patients collectively, or between control women and each clinical subgroup of endometriosis patients. Interestingly, the frequency of ICAM-1 EE homozygotes who concomitantly carried the IL-6 -634G allele was significantly higher in patients with endometriosis (chi(2) = 6.458, P = 0.0396, d.f. = 2).
  
  
  CONCLUSIONS
  Our results suggest that the IL-6 -634C/G and ICAM-1 469K/E polymorphisms synergistically affect the susceptibility for endometriosis in the Japanese population.
authors.affiliation: Department of Obstetrics and Gynecology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Kamigyo-ku, Kyoto 602-8566, Japan. kitawaki@koto.kpu-m.ac.jp
authors.forename: Jo
authors.initials: J
authors.lastname: Kitawaki
authors.forename: Miyo
authors.initials: M
authors.lastname: Kiyomizu
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Obayashi
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Ohta
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Ishihara
authors.forename: Goji
authors.initials: G
authors.lastname: Hasegawa
authors.forename: Naoto
authors.initials: N
authors.lastname: Nakamura
authors.forename: Toshikazu
authors.initials: T
authors.lastname: Yoshikawa
authors.forename: Hideo
authors.initials: H
authors.lastname: Honjo
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D018799:Intercellular Adhesion Molecule-1 / Q000235:genetics*; D015850:Interleukin-6 / Q000235:genetics*; D007564:Japan; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012306:Risk
chemical_list: D015850:Interleukin-6; D018799:Intercellular Adhesion Molecule-1