Hum. Reprod. Advance Access originally published online on May 18, 2007
Human Reproduction 2007 22(7):1866-1870; doi:10.1093/humrep/dem112
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Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes
1 Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Republic of Korea 2 Department of Obstetrics and Gynecology, The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, 28 Yungun-dong, Chongno-ku, Seoul 110-744, Republic of Korea 3 Department of Obstetrics and Gynecology, Pusan National University College of Medicine, Republic of Korea 4 Department of Obstetrics and Gynecology, Youngdong Severance Hospital, Yonsei University College of Medicine, Republic of Korea
5 Correspondence address. Fax: +82-2-762-3599; E-mail: ymchoi{at}snu.ac.kr
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.
Key words: aryl hydrocarbon receptor repressor/glutathione-S-transferase M1/glutathione-S-transferase T1/endometriosis; polymorphism
Submitted on January 11, 2007; resubmitted on March 24, 2007; accepted on March 30, 2007.
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