Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes.
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.
Kim
Sung Hoon
SH
Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, and Youngdong Severance Hospital, Republic of Korea.
Choi
Young Min
YM
Lee
Gyoung Hoon
GH
Hong
Min A
MA
Lee
Kyu Sup
KS
Lee
Byung Seok
BS
Kim
Jung Gu
JG
Moon
Shin Yong
SY
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*
D051792:Basic Helix-Loop-Helix Proteins; D003062:Codon; D005982:Glutathione Transferase; D012097:Repressor Proteins; C492162:AHRR protein, human; C495790:glutathione transferase T1-1, human