Results
| PMID | 17513317 |
| Gene Name | GSTT1 |
| Condition | Endometriosis |
| Association |
Associated |
| PMID | 17513317 |
| Gene Name | GSTT1 |
| Condition | Endometriosis |
| Association |
Associated |
| Population size | 572 |
| Population details | 572 (316 women with advanced stage endometriosis, 256 control women without endometriosis) |
| Sex | Female |
| Associated genes | AhRR, GSTT1 |
| Other associated phenotypes |
Endometriosis |
|
Hum Reprod. 2007 Jul;22(7):1866-70. Epub 2007 May 18. Kim, Sung Hoon| Choi, Young Min| Lee, Gyoung Hoon| Hong, Min A| Lee, Kyu Sup| Lee, Byung Seok| Kim, Jung Gu| Moon, Shin Yong Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, and Youngdong Severance Hospital, Republic of Korea. 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. Mesh Terms: Alleles| Basic Helix-Loop-Helix Transcription Factors| Codon| Endometriosis/*genetics| Female| Gene Frequency| *Genetic Predisposition to Disease| Genotype| Glutathione Transferase/*genetics| Homozygote| Humans| Korea| Odds Ratio| *Polymorphi |
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