Association between susceptibility to advanced stage endometriosis and the genetic polymorphisms of aryl hydrocarbon receptor repressor and glutathione-S-transferase T1 genes

Sung Hoon Kim, Young Min Choi, Y. M. Choi, Gyoung Hoon Lee, Min A Hong, Min Hong, K. S. Lee, Kyu Sup Lee, Byung Seok Lee, Jung Gu Kim, Jae-Won Kim, Shin Yong Moon, Sungji Moon
Human Reproduction · 2007 · vol. 22(7) , pp. 1866–1870 · doi:10.1093/humrep/dem112 · PMID:17513317 · W2135683331
article OA: bronze CC0 ⤵ 18 in-corpus citations
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This study found that G allele frequency at AhRR codon 185 and null mutation at GSTT1 were associated with increased risk of advanced stage endometriosis in a Korean population.

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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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Genetic Predisposition to Disease Glutathione Transferase Polymorphism, Genetic Repressor Proteins Alleles Basic Helix-Loop-Helix Proteins Codon Endometriosis Female Gene Frequency Genotype Glutathione Transferase Homozygote Humans Korea Odds Ratio Prevalence Repressor Proteins

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