title: Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes.
abstract: BACKGROUND
  This study was performed to determine whether genetic polymorphisms of aryl hydrocarbon receptor repressor (AhRR), glutathione-S-transferase M1 (GSTM1) and glutathione-S-transferase T1 (GSTT1) are associated with susceptibility to advanced stage endometriosis in a Korean population.
  
  
  METHODS
  This study comprised 316 women with advanced stage endometriosis and 256 control women without endometriosis. Genotyping of the AhRR codon 185 was performed by real-time polymerase chain reaction (PCR) analysis. GSTM1 and GSTT1 genotyping for gene deletions were carried out by multiplex PCR analysis.
  
  
  RESULTS
  G allele frequency at codon 185 of AhRR was increased in patients with endometriosis (P=0.047), and there was a trend for an association of C/G+G/G genotypes with risk of endometriosis (P=0.06). The proportion of null mutation at GSTT1 also tended to increase (P=0.06) in patients with endometriosis, whereas there was no difference in the genotype distribution of GSTM1 genes. Analyzing AhRR and GSTT1 together, we found that patients with high-risk genotypes at both loci have increased risk of endometriosis, compared with patients without high-risk genotypes (P=0.015).
  
  
  CONCLUSIONS
  These findings suggest that the AhRR codon 185 and GSTT1 polymorphisms are associated with the risk of advanced stage endometriosis.
authors.affiliation: Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, and Youngdong Severance Hospital, Republic of Korea.
authors.forename: Sung Hoon
authors.initials: SH
authors.lastname: Kim
authors.forename: Young Min
authors.initials: YM
authors.lastname: Choi
authors.forename: Gyoung Hoon
authors.initials: GH
authors.lastname: Lee
authors.forename: Min A
authors.initials: MA
authors.lastname: Hong
authors.forename: Kyu Sup
authors.initials: KS
authors.lastname: Lee
authors.forename: Byung Seok
authors.initials: BS
authors.lastname: Lee
authors.forename: Jung Gu
authors.initials: JG
authors.lastname: Kim
authors.forename: Shin Yong
authors.initials: SY
authors.lastname: Moon
mesh_terms: D000483:Alleles; D051792:Basic Helix-Loop-Helix Proteins; D003062:Codon; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007723:Korea; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D015995:Prevalence; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D003062:Codon; D005982:Glutathione Transferase; D012097:Repressor Proteins; C492162:AHRR protein, human; C495790:glutathione transferase T1-1, human